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Roger Ladda

Showing results (1-10 of 12) with videos related to

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American Journal of Medical Genetics. Part A|September 19, 2009
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literatureJoel Verbrugge, Arabinda Kumar Choudhary, Roger Ladda
Child Neurology Open|November 15, 2021
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in SiblingsRea Mittal, Ashutosh Kumar, Roger Ladda, et al.
Journal of Pediatric Genetics|February 19, 2019
Failure to Thrive: An Expanded Differential DiagnosisAlexandra Lazzara, Carrie Daymont, Roger Ladda, et al.
American Journal of Medical Genetics. Part A|June 1, 2016
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeNataliya Di Donato, Alma Kuechler, Samantha Vergano, et al.
Neurotoxicology|August 8, 2006
Hershey Medical Center Technical Workshop Report: optimizing the design and interpretation of epidemiologic studies for assessing neurodevelopmental effects from in utero chemical exposureRobert W Amler, Stanley Barone, Aysenil Belger, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, 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 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|September 19, 2009
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literatureJoel Verbrugge, Arabinda Kumar Choudhary, Roger Ladda
Child Neurology Open|November 15, 2021
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in SiblingsRea Mittal, Ashutosh Kumar, Roger Ladda, et al.
Journal of Pediatric Genetics|February 19, 2019
Failure to Thrive: An Expanded Differential DiagnosisAlexandra Lazzara, Carrie Daymont, Roger Ladda, et al.
American Journal of Medical Genetics. Part A|June 1, 2016
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeNataliya Di Donato, Alma Kuechler, Samantha Vergano, et al.
Neurotoxicology|August 8, 2006
Hershey Medical Center Technical Workshop Report: optimizing the design and interpretation of epidemiologic studies for assessing neurodevelopmental effects from in utero chemical exposureRobert W Amler, Stanley Barone, Aysenil Belger, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, 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.
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