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Annals of Neurology
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May 31, 2020
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study
Clare Cutri-French, Dallas Armstrong, Joni Saby, et al.
Nature Genetics
|
May 27, 2008
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
Trilochan Sahoo, Daniela del Gaudio, Jennifer R German, et al.
Contemporary Clinical Trials
|
February 12, 2022
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome
Jeffrey L Neul, Alan K Percy, Timothy A Benke, et al.
European Journal of Human Genetics : EJHG
|
May 25, 2007
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations
Trilochan Sahoo, Carlos A Bacino, Jennifer R German, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1997
Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13
U Peters, G Senger, M Rählmann, et al.
Developmental Medicine and Child Neurology
|
December 3, 2010
Alterations in white matter pathways in Angelman syndrome
Sarika U Peters, Walter E Kaufmann, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
Marwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Journal of Autism and Developmental Disorders
|
March 4, 2024
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
Melissa Raspa, Angela Gwaltney, Carla Bann, et al.
Journal of Autism and Developmental Disorders
|
January 31, 2021
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III
Anjali Sadhwani, Anne Wheeler, Angela Gwaltney, et al.
Journal of Medical Genetics
|
September 27, 2005
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
T Sahoo, S U Peters, N S Madduri, et al.
Page
of 15
Search research articles
Search
Showing results (101-110 of 146) with videos related to
Sort By:
Page
of 15
Annals of Neurology
|
May 31, 2020
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study
Clare Cutri-French, Dallas Armstrong, Joni Saby, et al.
Nature Genetics
|
May 27, 2008
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
Trilochan Sahoo, Daniela del Gaudio, Jennifer R German, et al.
Contemporary Clinical Trials
|
February 12, 2022
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome
Jeffrey L Neul, Alan K Percy, Timothy A Benke, et al.
European Journal of Human Genetics : EJHG
|
May 25, 2007
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations
Trilochan Sahoo, Carlos A Bacino, Jennifer R German, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1997
Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13
U Peters, G Senger, M Rählmann, et al.
Developmental Medicine and Child Neurology
|
December 3, 2010
Alterations in white matter pathways in Angelman syndrome
Sarika U Peters, Walter E Kaufmann, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
Marwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Journal of Autism and Developmental Disorders
|
March 4, 2024
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
Melissa Raspa, Angela Gwaltney, Carla Bann, et al.
Journal of Autism and Developmental Disorders
|
January 31, 2021
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III
Anjali Sadhwani, Anne Wheeler, Angela Gwaltney, et al.
Journal of Medical Genetics
|
September 27, 2005
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
T Sahoo, S U Peters, N S Madduri, et al.
Page
of 15