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Nature Genetics
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January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Communications
|
February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
American Journal of Human Genetics
|
March 9, 2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics
|
October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
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of 13
Search research articles
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Showing results (121-130 of 125) with videos related to
Sort By:
Page
of 13
You have reached the last page of results.
This site can display upto 125 results.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Communications
|
February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
American Journal of Human Genetics
|
March 9, 2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics
|
October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
Page
of 13