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European Journal of Human Genetics : EJHG
|
August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Lisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
American Journal of Human Genetics
|
November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
Gali Heimer, Juha M Kerätär, Lisa G Riley, et al.
American Journal of Human Genetics
|
April 2, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics
|
March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Nature Medicine
|
October 6, 2020
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Marie Wong, Chelsea Mayoh, Loretta M S Lau, et al.
Nature Immunology
|
September 20, 2019
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity
Nathan W Zammit, Owen M Siggs, Paul E Gray, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
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Search research articles
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Showing results (41-50 of 47) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 47 results.
European Journal of Human Genetics : EJHG
|
August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Lisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
American Journal of Human Genetics
|
November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
Gali Heimer, Juha M Kerätär, Lisa G Riley, et al.
American Journal of Human Genetics
|
April 2, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics
|
March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Nature Medicine
|
October 6, 2020
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Marie Wong, Chelsea Mayoh, Loretta M S Lau, et al.
Nature Immunology
|
September 20, 2019
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity
Nathan W Zammit, Owen M Siggs, Paul E Gray, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
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of 5