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Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|January 1, 1991
[Aplasia cutis after exposure to carbimazole in utero]J P Dutertre, A P Jonville, C Moraine, et al.European Journal of Human Genetics : EJHG|April 11, 2000
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28L Villard, V des Portes, N Levy, et al.Neuropediatrics|September 10, 1999
Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesisP H van der Valk, I Snoeck, L C Meiners, et al.Human Molecular Genetics|July 1, 1996
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardationP Billuart, M C Vinet, V des Portes, et al.Nature Genetics|February 2, 2000
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocationR Zemni, T Bienvenu, M C Vinet, et al.Neurology|August 18, 2010
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|January 1, 1991
[Value of ultrasonic diagnosis of fetal malformations in the detection of chromosomal abnormalities]D Galliano, C Paillet, G Body, et al.Annales De Pediatrie|September 1, 1992
[Menkes syndrome. An unusual pigmentation anomaly in a mother and three sisters]G Lorette, A Toutain, M Barthes, et al.Prenatal Diagnosis|June 22, 2000
Prenatal ultrasonographic diagnosis of the popliteal pterygium syndromeF Perrotin, G Haddad, A Guichet, et al.American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, et al.Pageof 11