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Showing results (171-180 of 175) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
The Journal of Clinical Investigation|February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2021
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotypeSatyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, et al.
Nature Genetics|August 13, 2021
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopauseJunhua Zhou, Elena A B Azizan, Claudia P Cabrera, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
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Showing results (171-180 of 175) with videos related to

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Pageof 18
You have reached the last page of results.This site can display upto 175 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
The Journal of Clinical Investigation|February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2021
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotypeSatyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, et al.
Nature Genetics|August 13, 2021
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopauseJunhua Zhou, Elena A B Azizan, Claudia P Cabrera, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
Pageof 18