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Hanan Hamamy

Showing results (41-50 of 56) with videos related to

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Clinical Chemistry and Laboratory Medicine|August 14, 2010
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemiaChristos Shammas, Thessalia Papasavva, Xenia Felekis, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
Cardiovascular Research|September 8, 2020
Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conductionZeina R Al Sayed, Robin Canac, Bastien Cimarosti, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeYun Li, Barbara Pawlik, Nursel Elcioglu, et al.
Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.
Nature Communications|October 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complexLauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Clinical Chemistry and Laboratory Medicine|August 14, 2010
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemiaChristos Shammas, Thessalia Papasavva, Xenia Felekis, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
Cardiovascular Research|September 8, 2020
Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conductionZeina R Al Sayed, Robin Canac, Bastien Cimarosti, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeYun Li, Barbara Pawlik, Nursel Elcioglu, et al.
Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.
Nature Communications|October 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complexLauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Pageof 6