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Journal of Human Genetics
|
August 20, 2025
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?
Pannaga Prasad G, Aleksandra Makarova, Kandasamy Kathirvel, et al.
Haematologica
|
September 21, 2014
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity
Michael Y Zhang, Siobán B Keel, Tom Walsh, et al.
Neurology
|
May 11, 2016
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection
Adi Aran, Nuphar Rosenfeld, Ranit Jaron, et al.
Journal of the National Cancer Institute
|
December 14, 2024
TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers
Suhair Lolas-Hamameh, Sari Lieberman, Alaa Sarahneh, et al.
Cell
|
August 6, 2013
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
Suleyman Gulsuner, Tom Walsh, Amanda C Watts, et al.
Clinical and Translational Gastroenterology
|
July 2, 2019
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
Sari Lieberman, Rachel Beeri, Tom Walsh, et al.
Journal of Medical Genetics
|
May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophy
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
Blood
|
May 21, 2026
Chromosome 5q deletion drives evolution of aneuploidy in myeloid neoplasms with complex karyotype
J Philip Creamer, Suhita Ray, Sintra Stewart, et al.
Journal of Medical Genetics
|
July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
Michal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Blood
|
June 1, 2017
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in <i>thrombopoietin</i>
Aaron Seo, Miri Ben-Harosh, Mehtap Sirin, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 63) with videos related to
Sort By:
Page
of 7
Journal of Human Genetics
|
August 20, 2025
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?
Pannaga Prasad G, Aleksandra Makarova, Kandasamy Kathirvel, et al.
Haematologica
|
September 21, 2014
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity
Michael Y Zhang, Siobán B Keel, Tom Walsh, et al.
Neurology
|
May 11, 2016
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection
Adi Aran, Nuphar Rosenfeld, Ranit Jaron, et al.
Journal of the National Cancer Institute
|
December 14, 2024
TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers
Suhair Lolas-Hamameh, Sari Lieberman, Alaa Sarahneh, et al.
Cell
|
August 6, 2013
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
Suleyman Gulsuner, Tom Walsh, Amanda C Watts, et al.
Clinical and Translational Gastroenterology
|
July 2, 2019
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
Sari Lieberman, Rachel Beeri, Tom Walsh, et al.
Journal of Medical Genetics
|
May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophy
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
Blood
|
May 21, 2026
Chromosome 5q deletion drives evolution of aneuploidy in myeloid neoplasms with complex karyotype
J Philip Creamer, Suhita Ray, Sintra Stewart, et al.
Journal of Medical Genetics
|
July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
Michal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Blood
|
June 1, 2017
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in <i>thrombopoietin</i>
Aaron Seo, Miri Ben-Harosh, Mehtap Sirin, et al.
Page
of 7