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

Panel: Stickler-Syndrom

Stickler Syndrome. 2000 Jun 9 [Updated 2014 Nov 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1302 / 20301479 COL11A1 120280 7833911 Brunner, H. G., et al. Hum. Molec. Genet. 3: 1561-1564, 1994. …

Panel: Waardenburg-Syndrom

Kategorie: Ohren Augen Haut Waardenburg-Syndrom…

Panel: Jeune-Syndrom

Kategorie: Knochen Herz Ziliopathien Wachstum …

Panel: Monogener Diabetes

Kategorie: Endokrine Organe Stoffwechsel Monogener Diabetes …

Panel: Glykogenspeicherkrankheit

Kategorie: Stoffwechsel Glykogenspeicherkrankheit PubID…

Panel: Zystische NierenErkrankung

NPHP3 608002 22213154 Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database PAX2 167409 20301424 Polycystic Kidney Disease, Autosomal Dominant PKD1 601313…

Panel: Bartter-Syndrom

AP2S1 602242 PMC3163795 Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects BSND 606412 PMC3163795 Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects 26963950 Familial Hypocalciuric Hypercalcemia Types…

Panel: Schwerhörigkeit, autosomal-dominante nicht-syndromale

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). MYO7A 276903 25077649 Xing, G., et al. Genet. Med. 17: 210-218, 2015. OSBPL2 606731 12161595 Blanton, S. H., et al.…

Panel: Adipositas

Kategorie: Stoffwechsel Adipositas PubID …

Panel: Gastrointestinale Stromatumore

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 KIT 164920 28168833 Ripperger et al. Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the…