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American Journal of Human Genetics
|
December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Acta Neuropathologica
|
February 19, 2013
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas
Adam M Fontebasso, Jeremy Schwartzentruber, Dong-Anh Khuong-Quang, et al.
Oncogene
|
February 3, 2022
HSP90 inhibitors induce GPNMB cell-surface expression by modulating lysosomal positioning and sensitize breast cancer cells to glembatumumab vedotin
Marco Biondini, Alex Kiepas, Leeanna El-Houjeiri, et al.
Nature Communications
|
February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Communications
|
January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Structural & Molecular Biology
|
August 25, 2025
The mitotic STAG3-cohesin complex shapes male germline nucleome
Masahiro Nagano, Bo Hu, Kosuke Ogata, et al.
Acta Neuropathologica
|
February 10, 2018
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease
Johanna Uusimaa, Riitta Kaarteenaho, Teija Paakkola, et al.
The Journal of Clinical Investigation
|
November 15, 2024
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles
Maryam Rezaei, Manqi Liang, Zeynep Yalcin, et al.
The Journal of Allergy and Clinical Immunology
|
July 14, 2016
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene
Chantal Lagresle-Peyrou, Sonia Luce, Farid Ouchani, et al.
American Journal of Human Genetics
|
October 13, 2006
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Martin Hrebícek, Lenka Mrázová, Volkan Seyrantepe, et al.
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of 34
Search research articles
Search
Showing results (291-300 of 333) with videos related to
Sort By:
Page
of 34
American Journal of Human Genetics
|
December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Acta Neuropathologica
|
February 19, 2013
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas
Adam M Fontebasso, Jeremy Schwartzentruber, Dong-Anh Khuong-Quang, et al.
Oncogene
|
February 3, 2022
HSP90 inhibitors induce GPNMB cell-surface expression by modulating lysosomal positioning and sensitize breast cancer cells to glembatumumab vedotin
Marco Biondini, Alex Kiepas, Leeanna El-Houjeiri, et al.
Nature Communications
|
February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Communications
|
January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Structural & Molecular Biology
|
August 25, 2025
The mitotic STAG3-cohesin complex shapes male germline nucleome
Masahiro Nagano, Bo Hu, Kosuke Ogata, et al.
Acta Neuropathologica
|
February 10, 2018
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease
Johanna Uusimaa, Riitta Kaarteenaho, Teija Paakkola, et al.
The Journal of Clinical Investigation
|
November 15, 2024
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles
Maryam Rezaei, Manqi Liang, Zeynep Yalcin, et al.
The Journal of Allergy and Clinical Immunology
|
July 14, 2016
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene
Chantal Lagresle-Peyrou, Sonia Luce, Farid Ouchani, et al.
American Journal of Human Genetics
|
October 13, 2006
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Martin Hrebícek, Lenka Mrázová, Volkan Seyrantepe, et al.
Page
of 34