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Nature Communications
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November 10, 2016
Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function
Martin H Berryer, Bidisha Chattopadhyaya, Paul Xing, et al.
Contemporary Clinical Trials
|
November 5, 2019
Preventing diabetes with digital health and coaching for translation and scalability (PREDICTS): A type 1 hybrid effectiveness-implementation trial protocol
Fabio A Almeida, Tzeyu L Michaud, Kathryn E Wilson, et al.
American Journal of Human Genetics
|
October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia
Myriam Srour, David Chitayat, Véronique Caron, et al.
Plos Genetics
|
September 24, 2010
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss
Volkan Seyrantepe, Pablo Lema, Aurore Caqueret, et al.
Clinical Genetics
|
September 9, 2016
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures
A A Mahmud, N A Nahid, C Nassif, et al.
Biological Psychiatry
|
January 18, 2011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism
Fadi F Hamdan, Hussein Daoud, Amélie Piton, et al.
BMC Medical Genomics
|
March 29, 2011
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
Tracy Tucker, Alexandre Montpetit, David Chai, et al.
HGG Advances
|
November 5, 2025
CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly
Haoling Xu, Zhen Liu, Fadi F Hamdan, et al.
Human Molecular Genetics
|
April 17, 2015
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies
Rama Rao Damerla, Cheng Cui, George C Gabriel, et al.
Plos Genetics
|
October 31, 2014
De novo mutations in moderate or severe intellectual disability
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, et al.
Page
of 51
Search research articles
Search
Showing results (431-440 of 509) with videos related to
Sort By:
Page
of 51
Nature Communications
|
November 10, 2016
Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function
Martin H Berryer, Bidisha Chattopadhyaya, Paul Xing, et al.
Contemporary Clinical Trials
|
November 5, 2019
Preventing diabetes with digital health and coaching for translation and scalability (PREDICTS): A type 1 hybrid effectiveness-implementation trial protocol
Fabio A Almeida, Tzeyu L Michaud, Kathryn E Wilson, et al.
American Journal of Human Genetics
|
October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia
Myriam Srour, David Chitayat, Véronique Caron, et al.
Plos Genetics
|
September 24, 2010
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss
Volkan Seyrantepe, Pablo Lema, Aurore Caqueret, et al.
Clinical Genetics
|
September 9, 2016
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures
A A Mahmud, N A Nahid, C Nassif, et al.
Biological Psychiatry
|
January 18, 2011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism
Fadi F Hamdan, Hussein Daoud, Amélie Piton, et al.
BMC Medical Genomics
|
March 29, 2011
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
Tracy Tucker, Alexandre Montpetit, David Chai, et al.
HGG Advances
|
November 5, 2025
CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly
Haoling Xu, Zhen Liu, Fadi F Hamdan, et al.
Human Molecular Genetics
|
April 17, 2015
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies
Rama Rao Damerla, Cheng Cui, George C Gabriel, et al.
Plos Genetics
|
October 31, 2014
De novo mutations in moderate or severe intellectual disability
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, et al.
Page
of 51