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Matthew A Deardorff

Showing results (91-100 of 128) with videos related to

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American Journal of Medical Genetics. Part A|February 8, 2014
Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstractsAntonie D Kline, Anne L Calof, Cheri A Schaaf, et al.
American Journal of Medical Genetics. Part A|June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomyJennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.
American Journal of Human Genetics|March 5, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasiaNaiara Akizu, Nuri M Shembesh, Tawfeg Ben-Omran, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndromeJuan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, et al.
Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.
Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutationsKatheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
American Journal of Human Genetics|November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating DefectsNiki T Loges, Dinu Antony, Ales Maver, et al.
Neurology. Genetics|July 20, 2019
HACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja Nagy, Ronja Hollstein, Tsung-Pin Pai, et al.
Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
Pageof 13

Showing results (91-100 of 128) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|February 8, 2014
Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstractsAntonie D Kline, Anne L Calof, Cheri A Schaaf, et al.
American Journal of Medical Genetics. Part A|June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomyJennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.
American Journal of Human Genetics|March 5, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasiaNaiara Akizu, Nuri M Shembesh, Tawfeg Ben-Omran, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndromeJuan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, et al.
Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.
Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutationsKatheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
American Journal of Human Genetics|November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating DefectsNiki T Loges, Dinu Antony, Ales Maver, et al.
Neurology. Genetics|July 20, 2019
HACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja Nagy, Ronja Hollstein, Tsung-Pin Pai, et al.
Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
Pageof 13