Search research articles
Contact Us
Filters
Showing results (1-10 of 19) with videos related to
Page
of 2
Sort By:
Fertility and Sterility
|
May 10, 2015
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia
Ranjith Ramasamy, M Emre Bakırcıoğlu, Cenk Cengiz, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2015
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome
Ender Karaca, Ozge O Yuregir, Sevcan T Bozdogan, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Chaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
JBMR Plus
|
March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
Annals of Clinical and Translational Neurology
|
August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
Jaya Punetha, Ender Karaca, Alper Gezdirici, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2018
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, et al.
Human Molecular Genetics
|
March 23, 2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Anlu Chen, Dov Tiosano, Tulay Guran, et al.
Nucleic Acids Research
|
December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Annals of Clinical and Translational Neurology
|
April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Dana Marafi, Tadahiro Mitani, Sedat Isikay, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 19) with videos related to
Sort By:
Page
of 2
Fertility and Sterility
|
May 10, 2015
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia
Ranjith Ramasamy, M Emre Bakırcıoğlu, Cenk Cengiz, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2015
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome
Ender Karaca, Ozge O Yuregir, Sevcan T Bozdogan, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Chaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
JBMR Plus
|
March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
Annals of Clinical and Translational Neurology
|
August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
Jaya Punetha, Ender Karaca, Alper Gezdirici, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2018
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, et al.
Human Molecular Genetics
|
March 23, 2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Anlu Chen, Dov Tiosano, Tulay Guran, et al.
Nucleic Acids Research
|
December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Annals of Clinical and Translational Neurology
|
April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Dana Marafi, Tadahiro Mitani, Sedat Isikay, et al.
Page
of 2