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A Bacino

Showing results (21-30 of 173) with videos related to

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American Journal of Medical Genetics|May 8, 1995
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literatureC A Bacino, R Schreck, N Fischel-Ghodsian, et al.
American Journal of Medical Genetics. Part A|January 8, 2005
A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocationTrilochan Sahoo, Rizwan Naeem, Kim Pham, et al.
The Journal of Clinical Endocrinology and Metabolism|April 14, 2005
Genetic and environmental factors influencing fasting serum adiponectin in Hispanic childrenNancy F Butte, Anthony G Comuzzie, Gouwen Cai, et al.
American Journal of Medical Genetics. Part A|August 14, 2009
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patientsV Reid Sutton, Katie Plunkett, Diane X Dang, et al.
American Journal of Human Genetics|March 31, 2000
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqterW Zhang, R Amir, D W Stockton, et al.
Molecular Genetics & Genomic Medicine|July 28, 2019
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defectPasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, et al.
American Journal of Medical Genetics|August 8, 1997
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief reviewD W Stockton, H L Ross, C A Bacino, et al.
American Journal of Medical Genetics. Part A|October 3, 2008
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutationNicola Brunetti-Pierri, Daniela Del Gaudio, Hartmut Peters, et al.
Neurology|August 17, 2018
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiencyJohn Vissing, H Orhan Akman, Jan Aasly, et al.
American Journal of Medical Genetics. Part A|November 26, 2009
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndromeSvetlana A Yatsenko, Maria del Valle Torrado, Priscilla H Fernandes, et al.
Pageof 18

Showing results (21-30 of 173) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics|May 8, 1995
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literatureC A Bacino, R Schreck, N Fischel-Ghodsian, et al.
American Journal of Medical Genetics. Part A|January 8, 2005
A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocationTrilochan Sahoo, Rizwan Naeem, Kim Pham, et al.
The Journal of Clinical Endocrinology and Metabolism|April 14, 2005
Genetic and environmental factors influencing fasting serum adiponectin in Hispanic childrenNancy F Butte, Anthony G Comuzzie, Gouwen Cai, et al.
American Journal of Medical Genetics. Part A|August 14, 2009
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patientsV Reid Sutton, Katie Plunkett, Diane X Dang, et al.
American Journal of Human Genetics|March 31, 2000
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqterW Zhang, R Amir, D W Stockton, et al.
Molecular Genetics & Genomic Medicine|July 28, 2019
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defectPasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, et al.
American Journal of Medical Genetics|August 8, 1997
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief reviewD W Stockton, H L Ross, C A Bacino, et al.
American Journal of Medical Genetics. Part A|October 3, 2008
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutationNicola Brunetti-Pierri, Daniela Del Gaudio, Hartmut Peters, et al.
Neurology|August 17, 2018
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiencyJohn Vissing, H Orhan Akman, Jan Aasly, et al.
American Journal of Medical Genetics. Part A|November 26, 2009
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndromeSvetlana A Yatsenko, Maria del Valle Torrado, Priscilla H Fernandes, et al.
Pageof 18