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Michael Wright

Showing results (291-300 of 299) with videos related to

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American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Nature Reviews. Endocrinology|November 27, 2021
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasiaRavi Savarirayan, Penny Ireland, Melita Irving, et al.
Cancer Letters|October 31, 2020
Challenges of the current precision medicine approach for pancreatic cancer: A single institution experience between 2013 and 2017Ding Ding, Ammar A Javed, Dea Cunningham, et al.
F1000Research|November 5, 2015
The khmer software package: enabling efficient nucleotide sequence analysisMichael R Crusoe, Hussien F Alameldin, Sherine Awad, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Pageof 30

Showing results (291-300 of 299) with videos related to

Sort By:
Pageof 30
You have reached the last page of results.This site can display upto 299 results.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Nature Reviews. Endocrinology|November 27, 2021
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasiaRavi Savarirayan, Penny Ireland, Melita Irving, et al.
Cancer Letters|October 31, 2020
Challenges of the current precision medicine approach for pancreatic cancer: A single institution experience between 2013 and 2017Ding Ding, Ammar A Javed, Dea Cunningham, et al.
F1000Research|November 5, 2015
The khmer software package: enabling efficient nucleotide sequence analysisMichael R Crusoe, Hussien F Alameldin, Sherine Awad, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Pageof 30