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Imen Chakchouk

Showing results (11-20 of 25) with videos related to

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Reproductive Sciences (Thousand Oaks, Calif.)|October 22, 2020
Reproductive Outcomes from Maternal Loss of Nlrp2 Are Not Improved by IVF or Embryo Transfer Consistent with Oocyte-Specific DefectSara Arian, Jessica Rubin, Imen Chakchouk, et al.
Research Square|June 17, 2024
Maternal loss-of-function of Nlrp2 results in failure of epigenetic reprogramming in mouse oocytesZahra Anvar, Michael D Jochum, Imen Chakchouk, et al.
European Journal of Human Genetics : EJHG|March 16, 2019
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian RomaIsabelle Schrauwen, Béla I Melegh, Imen Chakchouk, et al.
Human Molecular Genetics|January 21, 2015
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulationM'hamed Grati, Imen Chakchouk, Qi Ma, et al.
Biology of Reproduction|December 27, 2025
Loss of the Maternal Effect Gene NLRP2 Impairs Embryonic and Extra-Embryonic Development, Revealing a Novel Genetic Cause of Congenital Anomalies†Momal Sharif, Zahra Anvar, Imen Chakchouk, et al.
Human Mutation|February 4, 2016
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 IsoformM'hamed Grati, Denise Yan, Manmeet H Raval, et al.
Molecular Genetics and Genomics : MGG|January 31, 2015
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53Imen Chakchouk, M'hamed Grati, Guney Bademci, et al.
Journal of Human Genetics|September 5, 2018
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Ilene Chiu, Kwanghyuk Lee, et al.
Journal of Human Genetics|December 1, 2018
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significanceKhurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, et al.
Human Genetics|March 30, 2016
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60Mariem Ben Said, M'hamed Grati, Takahiro Ishimoto, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Reproductive Sciences (Thousand Oaks, Calif.)|October 22, 2020
Reproductive Outcomes from Maternal Loss of Nlrp2 Are Not Improved by IVF or Embryo Transfer Consistent with Oocyte-Specific DefectSara Arian, Jessica Rubin, Imen Chakchouk, et al.
Research Square|June 17, 2024
Maternal loss-of-function of Nlrp2 results in failure of epigenetic reprogramming in mouse oocytesZahra Anvar, Michael D Jochum, Imen Chakchouk, et al.
European Journal of Human Genetics : EJHG|March 16, 2019
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian RomaIsabelle Schrauwen, Béla I Melegh, Imen Chakchouk, et al.
Human Molecular Genetics|January 21, 2015
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulationM'hamed Grati, Imen Chakchouk, Qi Ma, et al.
Biology of Reproduction|December 27, 2025
Loss of the Maternal Effect Gene NLRP2 Impairs Embryonic and Extra-Embryonic Development, Revealing a Novel Genetic Cause of Congenital Anomalies†Momal Sharif, Zahra Anvar, Imen Chakchouk, et al.
Human Mutation|February 4, 2016
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 IsoformM'hamed Grati, Denise Yan, Manmeet H Raval, et al.
Molecular Genetics and Genomics : MGG|January 31, 2015
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53Imen Chakchouk, M'hamed Grati, Guney Bademci, et al.
Journal of Human Genetics|September 5, 2018
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Ilene Chiu, Kwanghyuk Lee, et al.
Journal of Human Genetics|December 1, 2018
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significanceKhurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, et al.
Human Genetics|March 30, 2016
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60Mariem Ben Said, M'hamed Grati, Takahiro Ishimoto, et al.
Pageof 3