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A Munnich

Showing results (411-420 of 426) with videos related to

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Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardationL Colleaux, M Rio, S Heuertz, et al.
Human Molecular Genetics|September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman, D E Ward, E Lajeunie-Renier, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 27, 2021
Electro-clinical features in epileptic children with chromosome 15q duplication syndromeM-T Dangles, V Malan, G Dumas, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Nature|June 6, 2000
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi, G Courtois, P Vabres, et al.
Pageof 43

Showing results (411-420 of 426) with videos related to

Sort By:
Pageof 43
Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardationL Colleaux, M Rio, S Heuertz, et al.
Human Molecular Genetics|September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman, D E Ward, E Lajeunie-Renier, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 27, 2021
Electro-clinical features in epileptic children with chromosome 15q duplication syndromeM-T Dangles, V Malan, G Dumas, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Nature|June 6, 2000
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi, G Courtois, P Vabres, et al.
Pageof 43