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Cell
|
March 18, 2022
Mucus sialylation determines intestinal host-commensal homeostasis
Yikun Yao, Girak Kim, Samantha Shafer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Journal of Crohn'S & Colitis
|
April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Jodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
American Journal of Human Genetics
|
March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
American Journal of Human Genetics
|
February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Nature
|
June 8, 2026
GPR15-guided CD8<sup>+</sup> T regulatory cells control intestinal inflammation
Jing Cui, Zuojia Chen, Yan H Cheng, et al.
American Journal of Human Genetics
|
June 4, 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Nature Genetics
|
April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
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Search research articles
Search
Showing results (121-130 of 136) with videos related to
Sort By:
Page
of 14
Cell
|
March 18, 2022
Mucus sialylation determines intestinal host-commensal homeostasis
Yikun Yao, Girak Kim, Samantha Shafer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Journal of Crohn'S & Colitis
|
April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Jodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
American Journal of Human Genetics
|
March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
American Journal of Human Genetics
|
February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Nature
|
June 8, 2026
GPR15-guided CD8<sup>+</sup> T regulatory cells control intestinal inflammation
Jing Cui, Zuojia Chen, Yan H Cheng, et al.
American Journal of Human Genetics
|
June 4, 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Nature Genetics
|
April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
Page
of 14