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R Sean Hill

Showing results (21-30 of 39) with videos related to

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Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, et al.
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Cell Reports|July 29, 2014
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasisM Chiara Manzini, Lan Xiong, Ranad Shaheen, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationTojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, et al.
Neuron|February 26, 2020
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5Andrew Kodani, Connor Kenny, Abbe Lai, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 23, 2021
Early role for a Na<sup>+</sup>,K<sup>+</sup>-ATPase (<i>ATP1A3</i>) in brain developmentRichard S Smith, Marta Florio, Shyam K Akula, et al.
Nature Genetics|October 2, 2012
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar developmentGaneshwaran H Mochida, Vijay S Ganesh, Maria I de Michelena, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, 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.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, et al.
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Cell Reports|July 29, 2014
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasisM Chiara Manzini, Lan Xiong, Ranad Shaheen, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationTojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, et al.
Neuron|February 26, 2020
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5Andrew Kodani, Connor Kenny, Abbe Lai, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 23, 2021
Early role for a Na<sup>+</sup>,K<sup>+</sup>-ATPase (<i>ATP1A3</i>) in brain developmentRichard S Smith, Marta Florio, Shyam K Akula, et al.
Nature Genetics|October 2, 2012
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar developmentGaneshwaran H Mochida, Vijay S Ganesh, Maria I de Michelena, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, 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.
Pageof 4