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Showing results (101-110 of 129) with videos related to
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Genome Research
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January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
Guntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Journal of Medical Genetics
|
March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
Gabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defects
Mengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Blood Advances
|
July 2, 2025
BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma
Claudia Pignataro, Pietro Zoppoli, Luca Vincenzo Cappelli, et al.
Epilepsia
|
October 22, 2019
The epileptology of GNB5 encephalopathy
Gemma Poke, Chontelle King, Alison Muir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2023
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Karim Karimi, Merel O Mol, Sadegheh Haghshenas, et al.
Cell
|
October 16, 2018
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development
Andrew T N Tebbenkamp, Luis Varela, Jinmyung Choi, et al.
International Journal of Molecular Sciences
|
February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
Genome Research
|
June 21, 2013
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
M Reza Sailani, Periklis Makrythanasis, Armand Valsesia, et al.
Elife
|
August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Page
of 13
Search research articles
Search
Showing results (101-110 of 129) with videos related to
Sort By:
Page
of 13
Genome Research
|
January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
Guntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Journal of Medical Genetics
|
March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
Gabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defects
Mengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Blood Advances
|
July 2, 2025
BH3 mimetic drugs overcome the microenvironment-induced resistance to crizotinib in ALK+ anaplastic large cell lymphoma
Claudia Pignataro, Pietro Zoppoli, Luca Vincenzo Cappelli, et al.
Epilepsia
|
October 22, 2019
The epileptology of GNB5 encephalopathy
Gemma Poke, Chontelle King, Alison Muir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2023
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Karim Karimi, Merel O Mol, Sadegheh Haghshenas, et al.
Cell
|
October 16, 2018
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development
Andrew T N Tebbenkamp, Luis Varela, Jinmyung Choi, et al.
International Journal of Molecular Sciences
|
February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
Genome Research
|
June 21, 2013
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
M Reza Sailani, Periklis Makrythanasis, Armand Valsesia, et al.
Elife
|
August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Page
of 13