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Case Reports in Genetics|December 29, 2025
Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the LiteratureLaila Baker, Faisal Hadid, Sara Salahaldeen Irshaidat, et al.Case Reports in Genetics|August 9, 2020
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated SyndromeNihit Kumar, Yuri A ZarateCase Reports in Genetics|February 5, 2015
Severe psychomotor delay in a severe presentation of cat-eye syndromeGuillaume Jedraszak, Aline Receveur, Joris Andrieux, et al.Case Reports in Genetics|February 28, 2015
A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetusCarolina Sismani, Georgia Christopoulou, Angelos Alexandrou, et al.Case Reports in Genetics|April 3, 2015
Erratum to "Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies"Sun-Mi Cho, Bo Young Hong, Yoonjung Kim, et al.Case Reports in Genetics|January 23, 2015
Meningocele in a congolese female with beckwith-wiedemann phenotypeSébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, et al.Case Reports in Genetics|October 18, 2012
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia SyndromeTanjung A Sumekar, Aneel A Ashrani, Tri I Winarni, et al.Case Reports in Genetics|October 18, 2012
Intrafamilial Variability of Early-Onset Diabetes due to an INS MutationSiri Fredheim, Jannet Svensson, Sven Pørksen, et al.Case Reports in Genetics|October 18, 2012
Clinical expression of an inherited unbalanced translocation in chromosome 6Bani Bandana Ganguly, Vijay Kadam, Nitin N KadamCase Reports in Genetics|October 18, 2012
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity SyndromeSheetal Sharda, Inusha Panigrahi, Ram Kumar MarwahaPageof 34