American Journal of Medical Genetics Part A

Journal Abbreviation: AM J MED GENET A
ISSN: 1552-4825
Publisher: Wiley-Blackwell

Publications (24)

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Abstract

Mutations in WDR4 as a new cause of Galloway–Mowat syndrome (2018) Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, et al. Journal article A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings (2018) Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel C, et al. Journal article Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu (2018) Kraus C, Uebe S, Thiel C, Ekici AB, Reis A, Zweier C Journal article Automatic recognition of the XLHED phenotype from facial images (2017) Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, et al. Journal article Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment (2017) Reuter M, Krumbiegel M, Schlueter G, Ekici AB, Reis A, Zweier C Journal article Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome (2017) Pasutto F, Flinter F, Rauch A, Reis A Journal article Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology (2017) Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, et al. Journal article DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome (2017) Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, et al. Journal article A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia (2016) Wohlfart S, Söder S, Smahi A, Schneider H Journal article Clinical delineation of the PACS1-related syndrome - Report on 19 patients (2016) Schuurs-Hoeijmakers JHM, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, et al. Journal article, Report
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