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American Journal of Human Genetics
|
March 5, 2016
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Tamar Harel, Gozde Yesil, Yavuz Bayram, et al.
Human Mutation
|
January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
Tiana M Scott, Hui Guo, Evan E Eichler, et al.
BMC Medical Genomics
|
July 21, 2016
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Wu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, et al.
American Journal of Human Genetics
|
September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
Francesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.
Plos Genetics
|
July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
Nature Communications
|
October 23, 2024
Ductal lavage followed by observation versus oral corticosteroids in idiopathic granulomatous mastitis: A randomized trial
Xiaolin Chen, Heng Huang, Hui Huang, et al.
Human Mutation
|
June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
Ronit Marom, Mahim Jain, Lindsay C Burrage, et al.
Science China. Life Sciences
|
May 17, 2022
A 10-miRNA risk score-based prediction model for pathological complete response to neoadjuvant chemotherapy in hormone receptor-positive breast cancer
Chang Gong, Ziliang Cheng, Yaping Yang, et al.
Signal Transduction and Targeted Therapy
|
May 21, 2026
Fulvestrant versus capecitabine as maintenance therapy in hormone receptor-positive, HER2-negative metastatic breast cancer after first-line chemotherapy (FAMILY): a multicenter, open-label, randomized, phase 3 trial
Wenjing Wu, Yaping Yang, Haizhu Chen, et al.
Human Mutation
|
November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency
Martin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.
Page
of 41
Search research articles
Search
Showing results (331-340 of 410) with videos related to
Sort By:
Page
of 41
American Journal of Human Genetics
|
March 5, 2016
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Tamar Harel, Gozde Yesil, Yavuz Bayram, et al.
Human Mutation
|
January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
Tiana M Scott, Hui Guo, Evan E Eichler, et al.
BMC Medical Genomics
|
July 21, 2016
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Wu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, et al.
American Journal of Human Genetics
|
September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
Francesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.
Plos Genetics
|
July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
Nature Communications
|
October 23, 2024
Ductal lavage followed by observation versus oral corticosteroids in idiopathic granulomatous mastitis: A randomized trial
Xiaolin Chen, Heng Huang, Hui Huang, et al.
Human Mutation
|
June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
Ronit Marom, Mahim Jain, Lindsay C Burrage, et al.
Science China. Life Sciences
|
May 17, 2022
A 10-miRNA risk score-based prediction model for pathological complete response to neoadjuvant chemotherapy in hormone receptor-positive breast cancer
Chang Gong, Ziliang Cheng, Yaping Yang, et al.
Signal Transduction and Targeted Therapy
|
May 21, 2026
Fulvestrant versus capecitabine as maintenance therapy in hormone receptor-positive, HER2-negative metastatic breast cancer after first-line chemotherapy (FAMILY): a multicenter, open-label, randomized, phase 3 trial
Wenjing Wu, Yaping Yang, Haizhu Chen, et al.
Human Mutation
|
November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency
Martin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.
Page
of 41