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Ruth McGowan

Showing results (31-40 of 44) with videos related to

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European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
European Journal of Human Genetics : EJHG|December 6, 2022
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testingLynne J Hocking, Claire Andrews, Christine Armstrong, et al.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Endocrine Connections|October 13, 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centresLuca Persani, Martine Cools, Stamatina Ioakim, et al.
ESC Heart Failure|September 6, 2021
Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre studyGabrielle Norrish, Gali Kolt, Elena Cervi, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
European Journal of Human Genetics : EJHG|December 6, 2022
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testingLynne J Hocking, Claire Andrews, Christine Armstrong, et al.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Endocrine Connections|October 13, 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centresLuca Persani, Martine Cools, Stamatina Ioakim, et al.
ESC Heart Failure|September 6, 2021
Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre studyGabrielle Norrish, Gali Kolt, Elena Cervi, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
Pageof 5