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Human Molecular Genetics
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May 21, 2019
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
Marialetizia Motta, Lena Sagi-Dain, Oliver H F Krumbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
Clinical Genetics
|
October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1
Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
JAMA Network Open
|
February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care
Daphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
Human Mutation
|
November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Brain : a Journal of Neurology
|
April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
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of 3
Search research articles
Search
Showing results (21-30 of 26) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 26 results.
Human Molecular Genetics
|
May 21, 2019
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
Marialetizia Motta, Lena Sagi-Dain, Oliver H F Krumbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
Clinical Genetics
|
October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1
Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
JAMA Network Open
|
February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care
Daphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
Human Mutation
|
November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Brain : a Journal of Neurology
|
April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
Page
of 3