Search research articles
Contact Us
Filters
Showing results (751-760 of 757) with videos related to
Page
of 76
Sort By:
You have reached the last page of results.
This site can display upto 757 results.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
The New England Journal of Medicine
|
June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
American Journal of Human Genetics
|
April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Science Advances
|
March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
Nature
|
July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Page
of 76
Search research articles
Search
Showing results (751-760 of 757) with videos related to
Sort By:
Page
of 76
You have reached the last page of results.
This site can display upto 757 results.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
The New England Journal of Medicine
|
June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
American Journal of Human Genetics
|
April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Science Advances
|
March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
Nature
|
July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Page
of 76