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M Nowaczyk

Showing results (191-200 of 216) with videos related to

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The Biochemical Journal|May 4, 2002
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structureAndré B P van Kuilenburg, Doreen Dobritzsch, Rutger Meinsma, et al.
Journal of Inherited Metabolic Disease|December 23, 2006
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiencyG S Salomons, C Jakobs, L Landegge Pope, et al.
International Journal of Molecular Sciences|September 10, 2021
De Novo Missense Mutations in <i>TNNC1</i> and <i>TNNI3</i> Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting AgentsRoua Hassoun, Heidi Budde, Hans Georg Mannherz, et al.
Nature Genetics|May 18, 2004
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-BIan D Krantz, Jennifer McCallum, Cheryl DeScipio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disordersZain Awamleh, Anthony Chen, Sanaa Choufani, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Pageof 22

Showing results (191-200 of 216) with videos related to

Sort By:
Pageof 22
The Biochemical Journal|May 4, 2002
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structureAndré B P van Kuilenburg, Doreen Dobritzsch, Rutger Meinsma, et al.
Journal of Inherited Metabolic Disease|December 23, 2006
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiencyG S Salomons, C Jakobs, L Landegge Pope, et al.
International Journal of Molecular Sciences|September 10, 2021
De Novo Missense Mutations in <i>TNNC1</i> and <i>TNNI3</i> Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting AgentsRoua Hassoun, Heidi Budde, Hans Georg Mannherz, et al.
Nature Genetics|May 18, 2004
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-BIan D Krantz, Jennifer McCallum, Cheryl DeScipio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disordersZain Awamleh, Anthony Chen, Sanaa Choufani, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Pageof 22