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Showing results (31-40 of 44) with videos related to

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American Journal of Medical Genetics. Part A|February 27, 2010
22q13.3 deletion syndrome: clinical and molecular analysis using array CGHS U Dhar, D del Gaudio, J R German, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
Human Mutation|September 27, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsKoutaro Yokote, Sirisak Chanprasert, Lin Lee, et al.
Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Annals of Clinical and Translational Neurology|April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- miceMilka Pringsheim, Diana Mitter, Simone Schröder, et al.
American Journal of Human Genetics|March 26, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental DisorderEduardo Calpena, Alexia Hervieu, Teresa Kaserer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|February 27, 2010
22q13.3 deletion syndrome: clinical and molecular analysis using array CGHS U Dhar, D del Gaudio, J R German, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
Human Mutation|September 27, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsKoutaro Yokote, Sirisak Chanprasert, Lin Lee, et al.
Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Annals of Clinical and Translational Neurology|April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- miceMilka Pringsheim, Diana Mitter, Simone Schröder, et al.
American Journal of Human Genetics|March 26, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental DisorderEduardo Calpena, Alexia Hervieu, Teresa Kaserer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
Pageof 5