Showing results (301-310 of 312) with videos related to
Sort By:
Pageof 32
Annales De Genetique|January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)M Mathieu, C Piussan, F Thepot, et al.Hypertension (Dallas, Tex. : 1979)|December 2, 2024
Definitive Evidence for the Identification and Function of Renin-Expressing Cholinergic Neurons in the Nucleus AmbiguusÉva M Fekete, Javier Gomez, Mina Ghobrial, et al.Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.Journal of Medical Genetics|August 31, 2015
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohortN Lavoine, C Colas, M Muleris, et al.Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.Pageof 32