Showing results (1021-1030 of 9,283) with videos related to
Sort By:
Pageof 929
American Journal of Medical Genetics. Part A|October 18, 2011
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3Emma M Jenkinson, Helen Kingston, Jill Urquhart, et al.American Journal of Medical Genetics. Part A|September 21, 2011
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinxLea Parsley, Gary Bellus, Michael Handler, et al.American Journal of Medical Genetics. Part A|March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndromeRoksana Armani, Hayley Archer, Angus Clarke, et al.American Journal of Medical Genetics. Part A|March 3, 2012
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patientsKarina Meden Sørensen, Milad El-Segaier, Eva Fernlund, et al.American Journal of Medical Genetics. Part A|February 4, 2012
Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variabilityEster Margarit, Carme Morales, Laia Rodríguez-Revenga, et al.American Journal of Medical Genetics. Part A|February 4, 2012
Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformationsPeter Agergaard, Charlotte Olesen, John Rosendahl Østergaard, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Clinical description of a patient carrying the smallest reported deletion involving 10p14 regionDaniela Melis, Rita Genesio, Pasquale Boemio, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutationN C Voermans, M Kempers, M Lammens, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patientsGabriella P Szabó, Alida C Knegt, Anikó Ujfalusi, et al.American Journal of Medical Genetics. Part A|March 13, 2012
De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic featuresAntonella Fabretto, Maria Santa Rocca, Maria Dolores Perrone, et al.Pageof 929