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American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
Genomics
|
May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings
Qian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Genetics in Medicine Open
|
December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
European Journal of Medical Genetics
|
October 22, 2021
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Jussara Mendonça Dos Santos, 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.
Cellular and Molecular Gastroenterology and Hepatology
|
January 17, 2017
<i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation
|
July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
Melissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
Human Mutation
|
September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
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Search research articles
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Showing results (31-40 of 72) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
Genomics
|
May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings
Qian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Genetics in Medicine Open
|
December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
European Journal of Medical Genetics
|
October 22, 2021
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Jussara Mendonça Dos Santos, 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.
Cellular and Molecular Gastroenterology and Hepatology
|
January 17, 2017
<i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation
|
July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
Melissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
Human Mutation
|
September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
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of 8