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Clinical Genetics|May 29, 2002

Cardiomyopathy in congenital complete lipodystrophyS Bhayana, V M Siu, G I Joubert, et al.

JIMD Reports|October 14, 2014

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern OntarioA Ferrand, V M Siu, C A Rupar, et al.

Nature Genetics|January 1, 1995

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphismK Fukai, S A Holmes, N J Lucchese, et al.

American Journal of Human Genetics|August 1, 1996

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patientsR Shimkets, M R Gailani, V M Siu, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1989

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremiaF P Cremers, D J van de Pol, B Wieringa, et al.

Journal of Inherited Metabolic Disease|April 24, 2026

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic StrategiesM I Mendes, D E Smith, V Spek, et al.

Clinical Genetics|August 19, 2015

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.

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Showing results (11-20 of 17) with videos related to

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You have reached the last page of results.This site can display upto 17 results.

Clinical Genetics|May 29, 2002

Cardiomyopathy in congenital complete lipodystrophyS Bhayana, V M Siu, G I Joubert, et al.

JIMD Reports|October 14, 2014

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern OntarioA Ferrand, V M Siu, C A Rupar, et al.

Nature Genetics|January 1, 1995

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphismK Fukai, S A Holmes, N J Lucchese, et al.

American Journal of Human Genetics|August 1, 1996

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patientsR Shimkets, M R Gailani, V M Siu, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1989

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremiaF P Cremers, D J van de Pol, B Wieringa, et al.

Journal of Inherited Metabolic Disease|April 24, 2026

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic StrategiesM I Mendes, D E Smith, V Spek, et al.

Clinical Genetics|August 19, 2015

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.

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