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Blood
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July 22, 2018
A novel disease-causing synonymous exonic mutation in <i>GATA2</i> affecting RNA splicing
Claudia Wehr, Katja Grotius, Silvia Casadei, et al.
International Journal of Cancer
|
May 10, 2017
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53
Suhair Lolas Hamameh, Paul Renbaum, Lara Kamal, et al.
Genome Research
|
September 3, 2011
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Suleyman Gulsuner, Ayse Begum Tekinay, Katja Doerschner, et al.
Journal of Medical Genetics
|
June 26, 2025
Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms
Angela L Jacobson, Amal AbuRayyan, Suleyman Gulsuner, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 1, 2015
Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor
Hilal Unal Gulsuner, Suleyman Gulsuner, Fatma Nazli Mercan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 26, 2014
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Hilal Unal Gulsuner, Suleyman Gulsuner, Fatma Nazli Mercan, et al.
The Journal of Allergy and Clinical Immunology
|
April 17, 2021
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management
Sarah K Baxter, Tom Walsh, Silvia Casadei, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 5, 2020
Genomic analysis of inherited hearing loss in the Palestinian population
Amal Abu Rayyan, Lara Kamal, Silvia Casadei, et al.
Neurology
|
February 12, 2017
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome
Adi Aran, Reeval Segel, Kota Kaneshige, et al.
The New England Journal of Medicine
|
September 13, 2018
Essential Role of BRCA2 in Ovarian Development and Function
Ariella Weinberg-Shukron, Mariana Rachmiel, Paul Renbaum, et al.
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of 7
Search research articles
Search
Showing results (31-40 of 63) with videos related to
Sort By:
Page
of 7
Blood
|
July 22, 2018
A novel disease-causing synonymous exonic mutation in <i>GATA2</i> affecting RNA splicing
Claudia Wehr, Katja Grotius, Silvia Casadei, et al.
International Journal of Cancer
|
May 10, 2017
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53
Suhair Lolas Hamameh, Paul Renbaum, Lara Kamal, et al.
Genome Research
|
September 3, 2011
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Suleyman Gulsuner, Ayse Begum Tekinay, Katja Doerschner, et al.
Journal of Medical Genetics
|
June 26, 2025
Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms
Angela L Jacobson, Amal AbuRayyan, Suleyman Gulsuner, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 1, 2015
Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor
Hilal Unal Gulsuner, Suleyman Gulsuner, Fatma Nazli Mercan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 26, 2014
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Hilal Unal Gulsuner, Suleyman Gulsuner, Fatma Nazli Mercan, et al.
The Journal of Allergy and Clinical Immunology
|
April 17, 2021
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management
Sarah K Baxter, Tom Walsh, Silvia Casadei, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 5, 2020
Genomic analysis of inherited hearing loss in the Palestinian population
Amal Abu Rayyan, Lara Kamal, Silvia Casadei, et al.
Neurology
|
February 12, 2017
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome
Adi Aran, Reeval Segel, Kota Kaneshige, et al.
The New England Journal of Medicine
|
September 13, 2018
Essential Role of BRCA2 in Ovarian Development and Function
Ariella Weinberg-Shukron, Mariana Rachmiel, Paul Renbaum, et al.
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of 7