Search research articles
Contact Us
Filters
Showing results (71-80 of 118) with videos related to
Page
of 12
Sort By:
Molecular Syndromology
|
August 7, 2025
Exploring Molecular and Phenotypic Characteristics of <i>NAGLU</i> Arg234Gly and Asp312Asn Variants
Hande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K Rai, et al.
Nature Medicine
|
July 11, 2017
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus
Jason K Karimy, Jinwei Zhang, David B Kurland, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
A Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
Life Science Alliance
|
August 21, 2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Angelina Haesoo Kim, Irmak Sakin, Stephen Viviano, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 30, 2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
Kaya Bilguvar, Navneet K Tyagi, Cigdem Ozkara, et al.
American Journal of Human Genetics
|
July 26, 2016
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Hongda Li, Stephanie L Bielas, Maha S Zaki, et al.
American Journal of Human Genetics
|
January 9, 2008
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
Betul Bakkaloglu, Brian J O'Roak, Angeliki Louvi, et al.
European Journal of Human Genetics : EJHG
|
April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Lucas M Bronicki, Claire Redin, Severine Drunat, et al.
American Journal of Human Genetics
|
May 3, 2011
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis
Mehmet Bakircioglu, Ofélia P Carvalho, Maryam Khurshid, et al.
Nature
|
February 25, 2026
OR7A10 GPCR engineering boosts CAR-NK therapy against solid tumours
Luojia Yang, Paul A Renauer, Kaiyuan Tang, et al.
Page
of 12
Search research articles
Search
Showing results (71-80 of 118) with videos related to
Sort By:
Page
of 12
Molecular Syndromology
|
August 7, 2025
Exploring Molecular and Phenotypic Characteristics of <i>NAGLU</i> Arg234Gly and Asp312Asn Variants
Hande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K Rai, et al.
Nature Medicine
|
July 11, 2017
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus
Jason K Karimy, Jinwei Zhang, David B Kurland, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
A Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
Life Science Alliance
|
August 21, 2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Angelina Haesoo Kim, Irmak Sakin, Stephen Viviano, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 30, 2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
Kaya Bilguvar, Navneet K Tyagi, Cigdem Ozkara, et al.
American Journal of Human Genetics
|
July 26, 2016
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Hongda Li, Stephanie L Bielas, Maha S Zaki, et al.
American Journal of Human Genetics
|
January 9, 2008
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
Betul Bakkaloglu, Brian J O'Roak, Angeliki Louvi, et al.
European Journal of Human Genetics : EJHG
|
April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Lucas M Bronicki, Claire Redin, Severine Drunat, et al.
American Journal of Human Genetics
|
May 3, 2011
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis
Mehmet Bakircioglu, Ofélia P Carvalho, Maryam Khurshid, et al.
Nature
|
February 25, 2026
OR7A10 GPCR engineering boosts CAR-NK therapy against solid tumours
Luojia Yang, Paul A Renauer, Kaiyuan Tang, et al.
Page
of 12