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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2012
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Weimin Bi, Caroline Borgan, Amber N Pursley, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 12, 2014
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia
Claudia Gonzaga-Jauregui, Sabina Mir, Samantha Penney, et al.
Journal of Neurodevelopmental Disorders
|
June 15, 2024
Developmental milestones and daily living skills in individuals with Angelman syndrome
Anjali Sadhwani, Sonya Powers, Anne Wheeler, et al.
Human Mutation
|
October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis
Danielle C Lynch, David A Dyment, Lijia Huang, et al.
Molecular Genetics and Metabolism Reports
|
November 25, 2014
Lysinuric Protein Intolerance Presenting with Multiple Fractures
Jennifer E Posey, Lindsay C Burrage, Marcus J Miller, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
Przemyslaw Szafranski, Sailaja Golla, Weihong Jin, et al.
European Journal of Human Genetics : EJHG
|
November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Marjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2022
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome
Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2010
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results
Sung-Hae L Kang, Chad Shaw, Zhishuo Ou, et al.
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Search research articles
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Showing results (61-70 of 173) with videos related to
Sort By:
Page
of 18
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2012
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Weimin Bi, Caroline Borgan, Amber N Pursley, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 12, 2014
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia
Claudia Gonzaga-Jauregui, Sabina Mir, Samantha Penney, et al.
Journal of Neurodevelopmental Disorders
|
June 15, 2024
Developmental milestones and daily living skills in individuals with Angelman syndrome
Anjali Sadhwani, Sonya Powers, Anne Wheeler, et al.
Human Mutation
|
October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis
Danielle C Lynch, David A Dyment, Lijia Huang, et al.
Molecular Genetics and Metabolism Reports
|
November 25, 2014
Lysinuric Protein Intolerance Presenting with Multiple Fractures
Jennifer E Posey, Lindsay C Burrage, Marcus J Miller, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
Przemyslaw Szafranski, Sailaja Golla, Weihong Jin, et al.
European Journal of Human Genetics : EJHG
|
November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Marjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2022
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome
Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2010
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results
Sung-Hae L Kang, Chad Shaw, Zhishuo Ou, et al.
Page
of 18