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Ruti Parvari

Showing results (31-40 of 47) with videos related to

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American Journal of Medical Genetics. Part A|February 14, 2006
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and reviewWinnie Courtens, Wim Wuyts, Martin Poot, et al.
Molecular Genetics & Genomic Medicine|May 16, 2020
Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patientMaram Arafat, Atif Zeadna, Eliahu Levitas, et al.
Cellular and Molecular Life Sciences : CMLS|March 6, 2010
Tubulin chaperone E binds microtubules and proteasomes and protects against misfolded protein stressOlga Voloshin, Yana Gocheva, Marina Gutnick, et al.
Human Molecular Genetics|October 15, 2015
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompactionEmad Muhammad, Aviva Levitas, Sonia R Singh, et al.
Journal of Medical Genetics|June 7, 2020
Mutation in <i>CATIP</i> (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamicsMaram Arafat, Avi Harlev, Iris Har-Vardi, et al.
American Journal of Human Genetics|February 9, 2010
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 geneVarda Levy-Litan, Eli Hershkovitz, Luba Avizov, et al.
Journal of Medical Genetics|May 25, 2017
Mutation in TDRD9 causes non-obstructive azoospermia in infertile menMaram Arafat, Iris Har-Vardi, Avi Harlev, et al.
Human Molecular Genetics|August 13, 2013
Congenital myopathy is caused by mutation of HACD1Emad Muhammad, Orit Reish, Yusuke Ohno, et al.
Human Mutation|April 10, 2016
A Homozygous Nme7 Mutation Is Associated with Situs Inversus TotalisOrit Reish, Liam Aspit, Arielle Zouella, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneityYaniv Faingelernt, Eli Hershkovitz, Bassam Abu-Libdeh, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|February 14, 2006
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and reviewWinnie Courtens, Wim Wuyts, Martin Poot, et al.
Molecular Genetics & Genomic Medicine|May 16, 2020
Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patientMaram Arafat, Atif Zeadna, Eliahu Levitas, et al.
Cellular and Molecular Life Sciences : CMLS|March 6, 2010
Tubulin chaperone E binds microtubules and proteasomes and protects against misfolded protein stressOlga Voloshin, Yana Gocheva, Marina Gutnick, et al.
Human Molecular Genetics|October 15, 2015
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompactionEmad Muhammad, Aviva Levitas, Sonia R Singh, et al.
Journal of Medical Genetics|June 7, 2020
Mutation in <i>CATIP</i> (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamicsMaram Arafat, Avi Harlev, Iris Har-Vardi, et al.
American Journal of Human Genetics|February 9, 2010
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 geneVarda Levy-Litan, Eli Hershkovitz, Luba Avizov, et al.
Journal of Medical Genetics|May 25, 2017
Mutation in TDRD9 causes non-obstructive azoospermia in infertile menMaram Arafat, Iris Har-Vardi, Avi Harlev, et al.
Human Molecular Genetics|August 13, 2013
Congenital myopathy is caused by mutation of HACD1Emad Muhammad, Orit Reish, Yusuke Ohno, et al.
Human Mutation|April 10, 2016
A Homozygous Nme7 Mutation Is Associated with Situs Inversus TotalisOrit Reish, Liam Aspit, Arielle Zouella, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneityYaniv Faingelernt, Eli Hershkovitz, Bassam Abu-Libdeh, et al.
Pageof 5