Showing results (1281-1290 of 9,284) with videos related to
Sort By:
Pageof 929
American Journal of Medical Genetics. Part A|November 11, 2015
Body proportions in children with Kabuki syndromeBas Penders, Nina Schott, Willem-Jan M Gerver, et al.American Journal of Medical Genetics. Part A|November 20, 2015
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformationDaniel M Ibrahim, Naeimeh Tayebi, Alexej Knaus, et al.American Journal of Medical Genetics. Part A|December 8, 2015
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literatureMarshall I B Fontes, Ana P Santos, Miriam C Molck, et al.American Journal of Medical Genetics. Part A|November 15, 2015
Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?Ágatha Cristhina Faria, Eliete Rabbi-Bortolini, Maria R G O Rebouças, et al.American Journal of Medical Genetics. Part A|November 18, 2015
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansionKaren W Gripp, Katherine M Robbins, Brandon S Sheffield, et al.American Journal of Medical Genetics. Part A|December 1, 2015
Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblingsLisa Johnson, Ann M Manzardo, Jennifer L Miller, et al.American Journal of Medical Genetics. Part A|December 8, 2015
Gershoni-Baruch syndrome: First report of a surviving childLaura Valfrè, Anwar Baban, Maria Cristina Digilio, et al.American Journal of Medical Genetics. Part A|December 8, 2015
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutationGökhan Yigit, Dagmar Wieczorek, Nina Bögershausen, et al.American Journal of Medical Genetics. Part A|December 8, 2015
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature reviewCecile Thomas-Teinturier, Arrate Pereda, Intza Garin, et al.American Journal of Medical Genetics. Part A|December 10, 2015
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosisDebra S Regier, Hyuk Joon Kwon, Jean Johnston, et al.Pageof 929