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Journal of Medical Genetics
|
January 13, 2021
Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disorders
Eduardo Calpena, Maud Wurmser, Simon J McGowan, et al.
American Journal of Human Genetics
|
May 16, 2007
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
Dagan Jenkins, Dominik Seelow, Fernanda S Jehee, et al.
American Journal of Human Genetics
|
May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
Stephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
Nature Neuroscience
|
January 22, 2019
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection
Wenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
Nature Neuroscience
|
June 22, 2019
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection
Wenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
Graeme E Glass, Justine O'Hara, Natalie Canham, et al.
American Journal of Human Genetics
|
July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
Cristina Dias, Sara B Estruch, Sarah A Graham, et al.
Nature Genetics
|
June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Eduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Zerin Hyder, Eduardo Calpena, Yang Pei, et al.
Page
of 14
Search research articles
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Showing results (111-120 of 135) with videos related to
Sort By:
Page
of 14
Journal of Medical Genetics
|
January 13, 2021
Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disorders
Eduardo Calpena, Maud Wurmser, Simon J McGowan, et al.
American Journal of Human Genetics
|
May 16, 2007
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
Dagan Jenkins, Dominik Seelow, Fernanda S Jehee, et al.
American Journal of Human Genetics
|
May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
Stephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
Nature Neuroscience
|
January 22, 2019
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection
Wenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
Nature Neuroscience
|
June 22, 2019
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection
Wenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
Graeme E Glass, Justine O'Hara, Natalie Canham, et al.
American Journal of Human Genetics
|
July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
Cristina Dias, Sara B Estruch, Sarah A Graham, et al.
Nature Genetics
|
June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Eduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Zerin Hyder, Eduardo Calpena, Yang Pei, et al.
Page
of 14