Search Results

Found 99 results for "head-holder-disease_names Syndrome"

Panel: Kutanes T-Zell-Lymphom

The mutational landscape of cutaneous T-cell lymphoma and Sézary syndrome. Nat Genet. 2015; 47(12). 1465-1470 CREBBP 600140 26551667 da Silva Almeida et al. The mutational landscape of cutaneous T-cell lymphoma and Sézary syndrome. Nat Genet. 2015; 47(12). 1465-1470 KMT2D 602113 …

Panel: Proteus-Syndrom

Kategorie: Syndrome Tumor Proteus-Syndrom …

Panel: Peroxisomen-Biogenese-Störungen

Kategorie: Stoffwechsel Syndrome Peroxisomen-Biogenese-Störungen …

Panel: Epidermolysis bullosa

FERMT1 607900 26854491 Interstitial lung disease, nephrotic syndrome and epidermolysis bullosa He, Yinghong, et al. "Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa." Journal of Investigative Dermatology 136.5 (2016): 1056-1059. ITGA3 …

Panel: Jervell-Lange-Nielsen-Syndrom

KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. (Letter) Nature Genet. 17: 267-268, 1997. KCNE1 176261 KCNQ1 607542

Panel: Rubinstein-Taybi-Syndrom

Kategorie: Gehirn Syndrome Rubinstein-Taybi-Syndrom …

Panel: Schwerhörigkeit, autosomal-rezessive nicht syndromale

2013 Dec 2;8(12) BDP1 607012 19646679 Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome BSND 606412 22981119 Schrauwen, I., et al. Am. J. Hum. Genet. 91: 636-645, 2012. CABP2 …

Panel: Schilddrüsenkarzinom

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am J Med Genet. 2016; 173(4):1017-1037 CDKN1B 600778 28168833 Ripperger et al. Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of…

Panel: Kongenitale Anomalien der Nieren und ableitenden Harnwege

BICC1 614295 24398540 Single-Gene Causes of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in Humans BMP4 112262 24429398 Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. …

Panel: Arthrogrypose

ADGRG6 612243 ALG3 608750 BIN1 601248 CFL2 601443 …