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B R Pober

Showing results (21-30 of 32) with videos related to

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The Journal of Pediatrics|June 1, 1995
Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndromeR Soper, J C Chaloupka, P B Fayad, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 29, 2010
High prevalence of diabetes and pre-diabetes in adults with Williams syndromeB R Pober, E Wang, S Caprio, et al.
American Journal of Medical Genetics|January 16, 1995
Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and reviewR G Boles, B R Pober, L H Gibson, et al.
Genomics|April 16, 1998
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardationM Piccini, F Vitelli, M Bruttini, et al.
The New England Journal of Medicine|December 10, 1998
A defect in the transport of long-chain fatty acids associated with acute liver failureA A Odaib, B L Shneider, M J Bennett, et al.
American Journal of Medical Genetics|March 30, 1999
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart diseaseT Pehlivan, B R Pober, M Brueckner, et al.
Human Molecular Genetics|May 24, 2001
Truncating mutations in FOXC2 cause multiple lymphedema syndromesD N Finegold, M A Kimak, E C Lawrence, et al.
Clinical Genetics|March 14, 2018
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndromeF Anglani, L Terrin, M Brugnara, et al.
Journal of Medical Genetics|May 23, 1998
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?J J Jonsson, A Renieri, P G Gallagher, et al.
American Journal of Medical Genetics. Part A|December 8, 2005
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndromeS Kantarci, D Casavant, C Prada, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
The Journal of Pediatrics|June 1, 1995
Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndromeR Soper, J C Chaloupka, P B Fayad, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 29, 2010
High prevalence of diabetes and pre-diabetes in adults with Williams syndromeB R Pober, E Wang, S Caprio, et al.
American Journal of Medical Genetics|January 16, 1995
Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and reviewR G Boles, B R Pober, L H Gibson, et al.
Genomics|April 16, 1998
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardationM Piccini, F Vitelli, M Bruttini, et al.
The New England Journal of Medicine|December 10, 1998
A defect in the transport of long-chain fatty acids associated with acute liver failureA A Odaib, B L Shneider, M J Bennett, et al.
American Journal of Medical Genetics|March 30, 1999
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart diseaseT Pehlivan, B R Pober, M Brueckner, et al.
Human Molecular Genetics|May 24, 2001
Truncating mutations in FOXC2 cause multiple lymphedema syndromesD N Finegold, M A Kimak, E C Lawrence, et al.
Clinical Genetics|March 14, 2018
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndromeF Anglani, L Terrin, M Brugnara, et al.
Journal of Medical Genetics|May 23, 1998
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?J J Jonsson, A Renieri, P G Gallagher, et al.
American Journal of Medical Genetics. Part A|December 8, 2005
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndromeS Kantarci, D Casavant, C Prada, et al.
Pageof 4