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J E Ming

Showing results (11-20 of 22) with videos related to

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American Journal of Medical Genetics|February 7, 1998
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndromeJ E Ming, D M McDonald-McGinn, R I Markowitz, et al.
American Journal of Medical Genetics|July 27, 2001
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literatureL Nanni, J E Ming, Y Du, et al.
Diabetes|June 28, 2000
Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing InvestigatorsC A Stanley, J Fang, K Kutyna, et al.
Clinical Dysmorphology|November 21, 1998
Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndromeJ E Ming, J Katowitz, D M McDonald-McGinn, et al.
Human Genetics|August 2, 2001
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephalyI M Orioli, E E Castilla, J E Ming, et al.
Journal of Medical Genetics|January 7, 2005
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndromeJ D Hoffman, Y Zhang, J Greshock, et al.
American Journal of Medical Genetics|May 8, 2000
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprintingJ E Ming, N Blagowidow, J H Knoll, et al.
Human Genetics|March 10, 1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientJ Gecz, E Baker, A Donnelly, et al.
American Journal of Medical Genetics|October 23, 1997
Skeletal anomalies and deformities in patients with deletions of 22q11J E Ming, D M McDonald-McGinn, T E Megerian, et al.
Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics|February 7, 1998
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndromeJ E Ming, D M McDonald-McGinn, R I Markowitz, et al.
American Journal of Medical Genetics|July 27, 2001
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literatureL Nanni, J E Ming, Y Du, et al.
Diabetes|June 28, 2000
Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing InvestigatorsC A Stanley, J Fang, K Kutyna, et al.
Clinical Dysmorphology|November 21, 1998
Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndromeJ E Ming, J Katowitz, D M McDonald-McGinn, et al.
Human Genetics|August 2, 2001
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephalyI M Orioli, E E Castilla, J E Ming, et al.
Journal of Medical Genetics|January 7, 2005
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndromeJ D Hoffman, Y Zhang, J Greshock, et al.
American Journal of Medical Genetics|May 8, 2000
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprintingJ E Ming, N Blagowidow, J H Knoll, et al.
Human Genetics|March 10, 1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientJ Gecz, E Baker, A Donnelly, et al.
American Journal of Medical Genetics|October 23, 1997
Skeletal anomalies and deformities in patients with deletions of 22q11J E Ming, D M McDonald-McGinn, T E Megerian, et al.
Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.
Pageof 3