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Jacek Majewski

Showing results (221-230 of 333) with videos related to

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Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.
Orphanet Journal of Rare Diseases|November 28, 2012
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyHugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
The Journal of Allergy and Clinical Immunology|October 15, 2014
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complexSven Kracker, Michela Di Virgilio, Jeremy Schwartzentruber, et al.
The Journal of Allergy and Clinical Immunology|March 26, 2013
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferationDespina Moshous, Emmanuel Martin, Wassila Carpentier, et al.
BMC Cancer|December 12, 2022
Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic dataMelissa Zwaig, Audrey Baguette, Bo Hu, et al.
Investigative Ophthalmology & Visual Science|March 22, 2017
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe ProgressionDaniel R Evans, Jane S Green, Gordon J Johnson, et al.
Human Molecular Genetics|December 18, 2024
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisisZachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane AbnormalitiesAlice Yang Zhang, Naveen Mysore, Hojatollah Vali, et al.
European Journal of Human Genetics : EJHG|November 26, 2015
DNM1L-related mitochondrial fission defect presenting as refractory epilepsyJason R Vanstone, Amanda M Smith, Skye McBride, et al.
Pageof 34

Showing results (221-230 of 333) with videos related to

Sort By:
Pageof 34
Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.
Orphanet Journal of Rare Diseases|November 28, 2012
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyHugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
The Journal of Allergy and Clinical Immunology|October 15, 2014
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complexSven Kracker, Michela Di Virgilio, Jeremy Schwartzentruber, et al.
The Journal of Allergy and Clinical Immunology|March 26, 2013
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferationDespina Moshous, Emmanuel Martin, Wassila Carpentier, et al.
BMC Cancer|December 12, 2022
Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic dataMelissa Zwaig, Audrey Baguette, Bo Hu, et al.
Investigative Ophthalmology & Visual Science|March 22, 2017
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe ProgressionDaniel R Evans, Jane S Green, Gordon J Johnson, et al.
Human Molecular Genetics|December 18, 2024
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisisZachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane AbnormalitiesAlice Yang Zhang, Naveen Mysore, Hojatollah Vali, et al.
European Journal of Human Genetics : EJHG|November 26, 2015
DNM1L-related mitochondrial fission defect presenting as refractory epilepsyJason R Vanstone, Amanda M Smith, Skye McBride, et al.
Pageof 34