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Damir Musaev

Showing results (11-20 of 31) with videos related to

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Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.
American Journal of Human Genetics|July 24, 2018
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental SyndromeMartin W Breuss, An Nguyen, Qiong Song, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAnide Johansen, Rasim O Rosti, Damir Musaev, et al.
American Journal of Human Genetics|March 26, 2019
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in HumansRanad Shaheen, Nan Jiang, Fatema Alzahrani, et al.
Brain : a Journal of Neurology|August 15, 2019
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, et al.
American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
Nature Communications|December 1, 2020
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar HypoplasiaEkin Ucuncu, Karthyayani Rajamani, Miranda S C Wilson, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.
American Journal of Human Genetics|July 24, 2018
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental SyndromeMartin W Breuss, An Nguyen, Qiong Song, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAnide Johansen, Rasim O Rosti, Damir Musaev, et al.
American Journal of Human Genetics|March 26, 2019
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in HumansRanad Shaheen, Nan Jiang, Fatema Alzahrani, et al.
Brain : a Journal of Neurology|August 15, 2019
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, et al.
American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
Nature Communications|December 1, 2020
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar HypoplasiaEkin Ucuncu, Karthyayani Rajamani, Miranda S C Wilson, et al.
Pageof 4