Search research articles
Contact Us
Filters
Showing results (11-20 of 96) with videos related to
Page
of 10
Sort By:
Blood Cells, Molecules & Diseases
|
October 14, 2015
13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease
Deborah Elstein, Aya Abrahamov, Anat Oz, et al.
Clinical and Translational Medicine
|
January 15, 2024
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health
Alina Kurolap, Chofit Chai Gadot, David Zahler, et al.
Molecular Genetics and Metabolism
|
July 21, 2024
Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotype
Ahmad Fokra, Hagit Baris Feldman, Alina Kurolap, et al.
Prenatal Diagnosis
|
April 8, 2022
Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing
Sivan Reytan, Noa Zunz Henig, Yoav Yinon, et al.
Early Human Development
|
April 28, 2020
Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies
Amihood Singer, Idit Maya, Ehud Banne, et al.
Journal of Genetics
|
May 19, 2025
Deletion of <i>RAI1</i> noncoding exons 1-2 causes Smith-Magenis syndrome
Uri Hamiel, Alina Kurolap, Chofit Chai Gadot, et al.
Prenatal Diagnosis
|
October 11, 2022
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing
Alina Kurolap, Adi Mory, Sharon Simchoni, et al.
The Breast Journal
|
August 18, 2016
Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?
Sivan Agranat, Hagit Baris, Inbal Kedar, et al.
Prenatal Diagnosis
|
August 28, 2023
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance
Noa Hourvitz, Alina Kurolap, Adi Mory, et al.
Molecular Genetics and Metabolism
|
May 28, 2019
Gaucher disease type 3c: New patients with unique presentations and review of the literature
Alina Kurolap, Mireia Del Toro, Ronen Spiegel, et al.
Page
of 10
Search research articles
Search
Showing results (11-20 of 96) with videos related to
Sort By:
Page
of 10
Blood Cells, Molecules & Diseases
|
October 14, 2015
13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease
Deborah Elstein, Aya Abrahamov, Anat Oz, et al.
Clinical and Translational Medicine
|
January 15, 2024
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health
Alina Kurolap, Chofit Chai Gadot, David Zahler, et al.
Molecular Genetics and Metabolism
|
July 21, 2024
Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotype
Ahmad Fokra, Hagit Baris Feldman, Alina Kurolap, et al.
Prenatal Diagnosis
|
April 8, 2022
Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing
Sivan Reytan, Noa Zunz Henig, Yoav Yinon, et al.
Early Human Development
|
April 28, 2020
Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies
Amihood Singer, Idit Maya, Ehud Banne, et al.
Journal of Genetics
|
May 19, 2025
Deletion of <i>RAI1</i> noncoding exons 1-2 causes Smith-Magenis syndrome
Uri Hamiel, Alina Kurolap, Chofit Chai Gadot, et al.
Prenatal Diagnosis
|
October 11, 2022
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing
Alina Kurolap, Adi Mory, Sharon Simchoni, et al.
The Breast Journal
|
August 18, 2016
Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?
Sivan Agranat, Hagit Baris, Inbal Kedar, et al.
Prenatal Diagnosis
|
August 28, 2023
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance
Noa Hourvitz, Alina Kurolap, Adi Mory, et al.
Molecular Genetics and Metabolism
|
May 28, 2019
Gaucher disease type 3c: New patients with unique presentations and review of the literature
Alina Kurolap, Mireia Del Toro, Ronen Spiegel, et al.
Page
of 10