Human Mutation

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  • 2022 Journal Article | Research Paper | 
    ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
    Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
    Human Mutation43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
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  • 2022 Journal Article | Research Paper | 
    ​ ​Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function​
    Lin, S.; Vona, B.; Porter, H. M.; Izadi, M.; Huang, K.; Lacassie, Y. & Rosenfeld, J. A. et al.​ (2022) 
    Human Mutation43(10) pp. 1472​-1489​.​ DOI: https://doi.org/10.1002/humu.24435 
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  • 2020 Journal Article
    ​ ​Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility​
    Ascari, G.; Peelman, F.; Farinelli, P.; Rosseel, T.; Lambrechts, N.; Wunderlich, K. A. & Wagner, M. et al.​ (2020) 
    Human Mutation41(5) pp. 998​-1011​.​ DOI: https://doi.org/10.1002/humu.23993 
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  • 2019 Journal Article
    ​ ​Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation​
    Coci, E. G.; Gapsys, V. ; Shur, N.; Shin‐Podskarbi, Y.; de Groot, B. L. ; Miller, K. & Vockley, J. et al.​ (2019) 
    Human Mutation40(6) pp. 816​-827​.​ DOI: https://doi.org/10.1002/humu.23742 
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  • 2019 Journal Article | 
    ​ ​Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification​
    Parsons, M. T.; Tudini, E.; Li, H.; Hahnen, E.; Wappenschmidt, B.; Feliubadaló, L. & Aalfs, C. M. et al.​ (2019) 
    Human Mutation40(9) pp. 1557​-1578​.​ DOI: https://doi.org/10.1002/humu.23818 
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  • 2019 Journal Article | 
    ​ ​A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2​
    Karsak, M.; Glebov, K.; Scheffold, M.; Bajaj, T.; Kawalia, A.; Karaca, I. & Rading, S. et al.​ (2019) 
    Human Mutation41(1) pp. 1​-13​.​ DOI: https://doi.org/10.1002/humu.23904 
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  • 2019 Journal Article
    ​ ​Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI​
    Fortugno, P.; Angelucci, F.; Cestra, G.; Camerota, L.; Ferraro, A. S.; Cordisco, S. & Uccioli, L. et al.​ (2019) 
    Human Mutation40(1) pp. 106​-114​.​ DOI: https://doi.org/10.1002/humu.23678 
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  • 2019 Journal Article | Research Paper | 
    ​ ​The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​
    Yigit, G. ; Saida, K.; DeMarzo, D.; Miyake, N.; Fujita, A.; Yang Tan, T. & White, S. M. et al.​ (2019) 
    Human Mutation41(3) pp. 591​-599​.​ DOI: https://doi.org/10.1002/humu.23964 
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  • 2018 Journal Article
    ​ ​Autosomal recessive primary microcephaly due to ASPM mutations: An update​
    Létard, P.; Drunat, S.; Vial, Y.; Duerinckx, S.; Ernault, A.; Amram, D. & Arpin, S. et al.​ (2018) 
    Human Mutation39(3) pp. 319​-332​.​ DOI: https://doi.org/10.1002/humu.23381 
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  • 2017 Journal Article
    ​ ​Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)​
    Wambach, J. A.; Stettner, G. M.; Haack, T. B.; Writzl, K.; Škofljanec, A.; Maver, A. & Munell, F. et al.​ (2017) 
    Human Mutation38(11) pp. 1477​-1484​.​ DOI: https://doi.org/10.1002/humu.23297 
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  • 2017 Journal Article
    ​ ​Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease​
    Nellen, R. G. L.; Steijlen, P. M.; van Steensel, M. A. M.; Vreeburg, M.; Frank, J. & van Geel, M.​ (2017) 
    Human Mutation38(4) pp. 343​-356​.​ DOI: https://doi.org/10.1002/humu.23164 
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  • 2016 Journal Article | Research Paper
    ​ ​DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System​
    Sommen, M.; Schrauwen, I.; Vandeweyer, G.; Boeckx, N.; Corneveaux, J. J.; van den Ende, J. & Boudewyns, A. et al.​ (2016) 
    Human Mutation37(8) pp. 812​-819​.​ DOI: https://doi.org/10.1002/humu.22999 
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  • 2016 Journal Article | Research Paper
    ​ ​Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2​
    Bögershausen, N.; Gatinois, V.; Riehmer, V.; Kayserili, H.; Becker, J.; Thoenes, M. & Simsek-Kiper, P. Ö. et al.​ (2016) 
    Human Mutation37(9) pp. 847​-864​.​ DOI: https://doi.org/10.1002/humu.23026 
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  • 2015 Journal Article
    ​ ​Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations​
    Martinelli, S.; Stellacci, E.; Pannone, L.; D’Agostino, D.; Consoli, F.; Lissewski, C. & Silvano, M. et al.​ (2015) 
    Human Mutation36(8) pp. 787​-796​.​ DOI: https://doi.org/10.1002/humu.22809 
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  • 2014 Journal Article
    ​ ​Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies​
    Marttila, M.; Lehtokari, V.-L.; Marston, S.; Nyman, T. A.; Barnerias, C.; Beggs, A. H. & Bertini, E. et al.​ (2014) 
    Human Mutation35(7) pp. 779​-790​.​ DOI: https://doi.org/10.1002/humu.22554 
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  • 2014 Journal Article | Research Paper
    ​ ​Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency​
    Murray, J. E.; Bicknell, L. S.; Yigit, G. ; Duker, A. L.; van Kogelenberg, M.; Haghayegh, S. & Wieczorek, D. et al.​ (2014) 
    Human Mutation35(1) pp. 76​-85​.​ DOI: https://doi.org/10.1002/humu.22461 
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  • 2013 Journal Article
    ​ ​Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa​
    Callewaert, B.; Su, C.-T.; Van Damme, T.; Vlummens, P.; Malfait, F.; Vanakker, O. & Schulz, B. et al.​ (2013) 
    Human Mutation34(1) pp. 111​-121​.​ DOI: https://doi.org/10.1002/humu.22165 
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  • 2012 Journal Article | Research Paper
    ​ ​Molecular and Biochemical Characterization of a Unique Mutation in CCS, the Human Copper Chaperone to Superoxide Dismutase​
    Huppke, P. ; Brendel, C.; Korenke, G. C.; Marquardt, I.; Donsante, A.; Yi, L. & Hicks, J. D. et al.​ (2012) 
    Human Mutation33(8) pp. 1207​-1215​.​ DOI: https://doi.org/10.1002/humu.22099 
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  • 2012 Journal Article
    ​ ​PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures​
    Schubert, J.; Paravidino, R.; Becker, F.; Berger, A.; Bebek, N.; Bianchi, A. & Brockmann, K. et al.​ (2012) 
    Human Mutation33(10) pp. 1439​-1443​.​ DOI: https://doi.org/10.1002/humu.22126 
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  • 2011 Journal Article
    ​ ​Molybdenum Cofactor Deficiency: Mutations in GPHN, MOCS1, and MOCS2​
    Reiss, J. & Hahnewald, R.​ (2011) 
    Human Mutation32(1) pp. 10​-18​.​ DOI: https://doi.org/10.1002/humu.21390 
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  • 2011 Journal Article
    ​ ​Characterization of Two Mutations in the SPTLC1 Subunit of Serine Palmitoyltransferase Associated with Hereditary Sensory and Autonomic Neuropathy Type I​
    Rotthier, A.; Penno, A.; Rautenstrauss, B.; Auer-Grumbach, M.; Stettner, G. M.; Asselbergh, B. & van Hoof, K. et al.​ (2011) 
    Human Mutation32(6) pp. E2211​-E2225​.​ DOI: https://doi.org/10.1002/humu.21481 
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  • 2011 Journal Article
    ​ ​Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10​
    Frank-Raue, K.; Rybicki, L. A.; Erlic, Z.; Schweizer, H.; Winter, A.; Milos, I. & Toledo, S. P. A. et al.​ (2011) 
    Human Mutation32(1) pp. 51​-58​.​ DOI: https://doi.org/10.1002/humu.21385 
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  • 2010 Journal Article | Research Paper
    ​ ​A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb​
    Wieczorek, D.; Pawlik, B.; Li, Y. ; Akarsu, N. A.; Caliebe, A.; May, K. J. W. & Schweiger, B. et al.​ (2010) 
    Human Mutation31(1) pp. 81​-89​.​ DOI: https://doi.org/10.1002/humu.21142 
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  • 2010 Journal Article | 
    ​ ​Functional Evaluation of Paraplegin Mutations by a Yeast Complementation Assay​
    Bonn, F.; Pantakani, K. ; Shoukier, M.; Langer, T. & Mannan, A. U.​ (2010) 
    Human Mutation31(5) pp. 617​-621​.​ DOI: https://doi.org/10.1002/humu.21226 
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  • 2009 Journal Article
    ​ ​The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism​
    Roessler, E.; Lacbawan, F.; Dubourg, C.; Paulussen, A.; Herbergs, J.; Hehr, U. & Bendavid, C. et al.​ (2009) 
    Human Mutation30(4) pp. E541​-E553​.​ DOI: https://doi.org/10.1002/humu.20982 
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  • 2009 Journal Article
    ​ ​Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene​
    Feldhammer, M.; Durand, S.; Mrazova, L.; Boucher, R.-M.; Laframboise, R.; Steinfeld, R. & Wraith, J. E. et al.​ (2009) 
    Human Mutation30(6) pp. 918​-925​.​ DOI: https://doi.org/10.1002/humu.20986 
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  • 2009 Journal Article
    ​ ​Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion​
    Denora, P. S.; Schlesinger, D.; Casali, C.; Kok, F.; Tessa, A.; Boukhris, A. & Azzedine, H. et al.​ (2009) 
    Human Mutation30(3) pp. E500​-E519​.​ DOI: https://doi.org/10.1002/humu.20945 
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  • 2009 Journal Article | Research Paper
    ​ ​A Mutation in the Signal Sequence of LRP5 in a Family With an Osteoporosis-Pseudoglioma Syndrome (OPPG)-Like Phenotype Indicates a Novel Disease Mechanism for Trinucleotide Repeats​
    Chung, B.-D.; Kayserili, H.; Ai, M.; Freudenberg, J.; Uezmcue, A.; Uyguner, O. & Bartels, C. F. et al.​ (2009) 
    Human Mutation30(4) pp. 641​-648​.​ DOI: https://doi.org/10.1002/humu.20916 
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  • 2009 Journal Article | Research Paper
    ​ ​Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling​
    Valencia, M.; Lapunzina, P.; Lim, D.; Zannolli, R.; Bartholdi, D.; Wollnik, B.   & Al-Ajlouni, O. et al.​ (2009) 
    Human Mutation30(12) pp. 1667​-1675​.​ DOI: https://doi.org/10.1002/humu.21117 
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  • 2007 Journal Article | Research Paper
    ​ ​Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment​
    Collin, R. W. J.; Kalay, E.; Oostrik, J.; Caylan, R.; Wollnik, B. ; Arslan, S. & Hollander, A. I. den et al.​ (2007) 
    Human Mutation28(7) pp. 718​-723​.​ DOI: https://doi.org/10.1002/humu.20510 
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  • 2006 Journal Article
    ​ ​Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3 ): xeroderma pigmentosum without and with Cockayne syndrome​
    Oh, K.-S.; Khan, S. G.; Jaspers, N.; Raams, A.; Ueda, T.; Lehmann, A. & Friedmann, P. S. et al.​ (2006) 
    Human Mutation27(11) pp. 1092​-1103​.​ DOI: https://doi.org/10.1002/humu.20392 
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  • 2006 Journal Article | Research Paper
    ​ ​Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss​
    Kalay, E.; Li, Y.; Uzumcu, A.; Uyguner, O.; Collin, R. W. J.; Caylan, R. & Ulubil-Emiroglu, M. et al.​ (2006) 
    Human Mutation27(7) pp. 633​-639​.​ DOI: https://doi.org/10.1002/humu.20368 
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  • 2005 Journal Article
    ​ ​cb1E type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression (vol 25, pg 239, 2005)​
    Zavadakova, P.; Fowler, B.; Suormala, T.; Novotna, Z.; Mueller, P.; Hennermann, J. B. & Zeman, J. et al.​ (2005) 
    Human Mutation26(6).​ DOI: https://doi.org/10.1002/humu.20270 
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  • 2005 Journal Article
    ​ ​cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression​
    Zavadakova, P.; Fowler, B.; Suormala, T.; Novotna, Z.; Mueller, P.; Hennermann, J. B. & Zeman, J. et al.​ (2005) 
    Human Mutation25(3) pp. 239​-247​.​ DOI: https://doi.org/10.1002/humu.20131 
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  • 2005 Journal Article
    ​ ​Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R​
    Murthy, K. K.; Mahboubi, V. S.; Santiago, A.; Barragan, M. T.; Knoll, R.; Schultheiss, H. & O’Connor, D. T. et al.​ (2005) 
    Human Mutation26(2) pp. 145​-152​.​ DOI: https://doi.org/10.1002/humu.20199 
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  • 2005 Journal Article | Research Paper
    ​ ​Application of genomewide SNP arrays for detection of simulated susceptibility loci​
    Kulle, B.; Schirmer, M. ; Toliat, M. R.; Suk, A.; Becker, C.; Tzvetkov, M.   & Brockmöller, J.  et al.​ (2005) 
    Human Mutation25(6) pp. 557​-565​.​ DOI: https://doi.org/10.1002/humu.20174 
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  • 2004 Journal Article
    ​ ​Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis​
    Ramírez, A.; Faupel, J.; Goebel, I.; Stiller, A.; Beyer, S.; Stöckle, C. & Hasan, C. et al.​ (2004) 
    Human Mutation23(5) pp. 471​-476​.​ DOI: https://doi.org/10.1002/humu.20028 
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  • 2004 Journal Article
    ​ ​Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (vol 23, pg 234, 2003)​
    Laccone, F. A.; Junemann, I.; Whatley, S.; Morgan, R.; Butler, R.; Huppke, P. & Ravine, D.​ (2004) 
    Human Mutation23(4).​ DOI: https://doi.org/10.1002/humu.20042 
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  • 2004 Journal Article
    ​ ​Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome​
    Laccone, F. A.; Junemann, I.; Whatley, S.; Morgan, R.; Butler, R.; Huppke, P. & Ravine, D.​ (2004) 
    Human Mutation23(3) pp. 234​-244​.​ DOI: https://doi.org/10.1002/humu.20004 
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  • 2004 Journal Article
    ​ ​Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye​
    Boehm, D.; Herold, S.; Kuechler, A.; Liehr, T. & Laccone, F. A.​ (2004) 
    Human Mutation23(4) pp. 368​-378​.​ DOI: https://doi.org/10.1002/humu.20011 
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  • 2004 Journal Article
    ​ ​Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)​
    Hering, R.; Strauss, K. A.; Tao, X.; Bauer, A.; Woitalla, D.; Mietz, E. M. & Bauer, P. et al.​ (2004) 
    Human Mutation24(4) pp. 321​-329​.​ DOI: https://doi.org/10.1002/humu.20089 
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  • 2003 Journal Article
    ​ ​Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease​
    Henneke, M.; Flaschker, N.; Helbling, C.; Müller, M.; Schadewaldt, P.; Gärtner, J.   & Wendel, U.​ (2003) 
    Human Mutation22(5) pp. 417​-417​.​ DOI: https://doi.org/10.1002/humu.9187 
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  • 2003 Journal Article
    ​ ​Mutations and polymorphisms in the human methyl CpG-binding protein MECP2​
    Miltenberger-Miltenyi, G. & Laccone, F. A.​ (2003) 
    Human Mutation22(2) pp. 107​-115​.​ DOI: https://doi.org/10.1002/humu.10243 
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  • 2003 Journal Article
    ​ ​Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH​
    Reiss, J. & Johnson, J. L.​ (2003) 
    Human Mutation21(6) pp. 569​-576​.​ DOI: https://doi.org/10.1002/humu.10223 
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  • 2002 Journal Article
    ​ ​Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?​
    Rubie, C.; Lichtner, P.; Gärtner, J. ; Siekiera, M.; Uziel, G.; Kohlmann, B. & Kohlschütter, A. et al.​ (2002) 
    Human Mutation21(1) pp. 45​-52​.​ DOI: https://doi.org/10.1002/humu.10145 
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  • 2002 Journal Article
    ​ ​Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10​
    Zoll, B.; Petersen, L.; Lange, K.; Gabriel, P.; Kiese-Himmel, C.; Rausch, P. & Berger, J. et al.​ (2002) 
    Human Mutation21(1) pp. 98​-98​.​ DOI: https://doi.org/10.1002/humu.9098 
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  • 2002 Journal Article
    ​ ​Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia​
    Sauter, S. M.; Miterski, B.; Klimpe, S.; Bonsch, D.; Schols, L.; Visbeck, A. & Papke, T. et al.​ (2002) 
    Human Mutation20(2) pp. 127​-132​.​ DOI: https://doi.org/10.1002/humu.10105 
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  • 2002 Journal Article
    ​ ​Analysis of the PTCH Coding Region in Human Rhabdomyosarcoma​
    Calzada-Wack, J.; Schnitzbauer, U.; Walch, A.; Wurster, K.-H.; Kappler, R.; Nathrath, M. & Hahn, H.​ (2002) 
    Human Mutation20(3).​ DOI: https://doi.org/10.1002/humu.9056 
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  • 2001 Journal Article
    ​ ​Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes​
    Immervoll, T.; Loesgen, S.; Dütsch, G.; Gohlke, H.; Herbon, N.; Klugbauer, S. & Dempfle, A. et al.​ (2001) 
    Human Mutation18(4) pp. 327​-336​.​ DOI: https://doi.org/10.1002/humu.1194 
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  • 2001 Journal Article
    ​ ​Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene​
    Kugler, W.; Pekrun, A.; Laspe, P.; Erdlenbruch, B. & Lakomek, M.​ (2001) 
    Human Mutation17(4) pp. 348​-348​.​ DOI: https://doi.org/10.1002/humu.31 
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  • 2001 Journal Article
    ​ ​Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions​
    Laccone, F. A.; Huppke, P.; Hanefeld, F. & Meins, M.​ (2001) 
    Human Mutation17(3) pp. 183​-190​.​ DOI: https://doi.org/10.1002/humu.3 
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  • 2001 Journal Article | Research Paper
    ​ ​Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene​
    Weller, S. & Gärtner, J. ​ (2001) 
    Human Mutation18(1) pp. 1​-12​.​ DOI: https://doi.org/10.1002/humu.1144 
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  • 2000 Journal Article
    ​ ​Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia​
    Kugler, W.; Willaschek, C.; Holtz, C.; Ohlenbusch, A.; Laspe, P.; Krugener, R. & Muirhead, H. et al.​ (2000) 
    Human Mutation15(3) pp. 261​-272​.​ DOI: https://doi.org/10.1002/(SICI)1098-1004(200003)15:3<261::AID-HUMU7>3.0.CO;2-T 
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  • 2000 Journal Article
    ​ ​SALL1 mutations in Townes-Brocks syndrome and related disorders​
    Kohlhase, J.​ (2000) 
    Human Mutation16(6) pp. 460​-466​.​ DOI: https://doi.org/10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4 
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