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Allen N Lamb

Showing results (21-30 of 29) with videos related to

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American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
American Journal of Medical Genetics. Part A|January 25, 2013
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsJohn C K Barber, Jill A Rosenfeld, Nicola Foulds, et al.
Neurogenetics|February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
American Journal of Medical Genetics. Part A|January 25, 2013
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsJohn C K Barber, Jill A Rosenfeld, Nicola Foulds, et al.
Neurogenetics|February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.
Pageof 3