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Ayala Frumkin

Showing results (11-20 of 39) with videos related to

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Prenatal Diagnosis|September 5, 2002
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimateShira Silverstein, Israela Lerer, Michal Sagi, et al.
The Journal of Pathology|June 27, 2009
A potentially dynamic lysosomal role for the endogenous TRPML proteinsDavid A Zeevi, Ayala Frumkin, Vered Offen-Glasner, et al.
The Journal of Biological Chemistry|November 27, 2009
Constitutive activity of the human TRPML2 channel induces cell degenerationShaya Lev, David A Zeevi, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, et al.
Journal of Pediatric and Adolescent Gynecology|September 21, 2023
A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 DeletionHagit Daum, Einav Kremer, Ayala Frumkin, et al.
Traffic (Copenhagen, Denmark)|January 25, 2012
Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1David L Marks, Eileen L Holicky, Christine L Wheatley, et al.
Prenatal Diagnosis|January 13, 2018
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studiesHagit Daum, Israela Lerer, Ayala Frumkin, et al.
Developmental Biology|February 15, 2005
Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levelsRonit Yelin, Racheli Ben-Haroush Schyr, Hadas Kot, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
A human laterality disorder associated with a homozygous WDR16 deletionAsaf Ta-Shma, Zeev Perles, Barak Yaacov, et al.
Journal of Assisted Reproduction and Genetics|April 23, 2015
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermiaEsther Maor-Sagie, Yuval Cinnamon, Barak Yaacov, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Prenatal Diagnosis|September 5, 2002
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimateShira Silverstein, Israela Lerer, Michal Sagi, et al.
The Journal of Pathology|June 27, 2009
A potentially dynamic lysosomal role for the endogenous TRPML proteinsDavid A Zeevi, Ayala Frumkin, Vered Offen-Glasner, et al.
The Journal of Biological Chemistry|November 27, 2009
Constitutive activity of the human TRPML2 channel induces cell degenerationShaya Lev, David A Zeevi, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, et al.
Journal of Pediatric and Adolescent Gynecology|September 21, 2023
A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 DeletionHagit Daum, Einav Kremer, Ayala Frumkin, et al.
Traffic (Copenhagen, Denmark)|January 25, 2012
Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1David L Marks, Eileen L Holicky, Christine L Wheatley, et al.
Prenatal Diagnosis|January 13, 2018
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studiesHagit Daum, Israela Lerer, Ayala Frumkin, et al.
Developmental Biology|February 15, 2005
Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levelsRonit Yelin, Racheli Ben-Haroush Schyr, Hadas Kot, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
A human laterality disorder associated with a homozygous WDR16 deletionAsaf Ta-Shma, Zeev Perles, Barak Yaacov, et al.
Journal of Assisted Reproduction and Genetics|April 23, 2015
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermiaEsther Maor-Sagie, Yuval Cinnamon, Barak Yaacov, et al.
Pageof 4