Showing results (751-760 of 1,163) with videos related to
Sort By:
Pageof 117
Clinical Dysmorphology|May 11, 2002
Kabuki syndrome: a review study of three hundred patientsMarja W Wessels, Alice S Brooks, Jeannette Hoogeboom, et al.Clinical Dysmorphology|September 28, 2011
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab familyJumana Y Al-Aama, Amal A Dabbagh, Alaa Y EdreesClinical Dysmorphology|November 24, 2011
A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?Brian T Wilson, Rachel Newby, Kathryn Watts, et al.Clinical Dysmorphology|June 5, 2012
Sirenomelia: four further cases with discussion of associated upper limb defectsShahida Moosa, Lindsay Ann Lambie, Amanda KrauseClinical Dysmorphology|August 5, 2011
Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic associationAli Al Kaissi, Katharina M Roetzer, Ellen Heitzer, et al.Clinical Dysmorphology|September 22, 2011
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray, Muhammed Walayat, Peter Gillett, et al.Clinical Dysmorphology|October 1, 2011
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ringDaniela Melis, Rita Genesio, Ennio Del Giudice, et al.Clinical Dysmorphology|October 1, 2011
Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasiaPankaj Prasun, Swati A Karmarkar, Ajay Agarwal, et al.Clinical Dysmorphology|January 20, 2012
Macrocephaly-capillary malformation: a report of four Chinese patients and literature reviewHo Ming Luk, Ivan F M Lo, Carman W S Lai, et al.Clinical Dysmorphology|April 5, 2012
Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosisMaryam Rafati, Elaheh Seyyedaboutorabi, Razieh Brujerdi, et al.Pageof 117