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A Micheil Innes

Showing results (41-50 of 156) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
American Journal of Medical Genetics. Part A|September 17, 2015
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactylyJulien L Marcadier, Alan J Mears, Elizabeth A Woods, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
Correction: The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
American Journal of Medical Genetics. Part A|December 9, 2020
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrumAmanda S Freed, Anisha C Schwarz, Brianna K Brei, et al.
Human Molecular Genetics|June 19, 2015
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathySarah L Sawyer, Andy Cheuk-Him Ng, A Micheil Innes, et al.
Paediatrics & Child Health|January 5, 2010
Congenital rickets caused by maternal vitamin D deficiencyA Micheil Innes, Molly M Seshia, Chitra Prasad, et al.
G3 (Bethesda, Md.)|March 24, 2022
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivoDanielle L Blackwell, Sherri D Fraser, Oana Caluseriu, et al.
Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.
Bone Reports|March 23, 2023
From "<i>ACAN</i>" to "I CAN": Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation managementMaria Ochoa, Ashlee Yang, Carrie Kollias, et al.
Cancer Discovery|December 5, 2014
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtypeSarah L Sawyer, Lei Tian, Marketta Kähkönen, et al.
Pageof 16

Showing results (41-50 of 156) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
American Journal of Medical Genetics. Part A|September 17, 2015
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactylyJulien L Marcadier, Alan J Mears, Elizabeth A Woods, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
Correction: The value of diagnostic testing for parents of children with rare genetic diseasesDeborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, et al.
American Journal of Medical Genetics. Part A|December 9, 2020
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrumAmanda S Freed, Anisha C Schwarz, Brianna K Brei, et al.
Human Molecular Genetics|June 19, 2015
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathySarah L Sawyer, Andy Cheuk-Him Ng, A Micheil Innes, et al.
Paediatrics & Child Health|January 5, 2010
Congenital rickets caused by maternal vitamin D deficiencyA Micheil Innes, Molly M Seshia, Chitra Prasad, et al.
G3 (Bethesda, Md.)|March 24, 2022
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivoDanielle L Blackwell, Sherri D Fraser, Oana Caluseriu, et al.
Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.
Bone Reports|March 23, 2023
From "<i>ACAN</i>" to "I CAN": Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation managementMaria Ochoa, Ashlee Yang, Carrie Kollias, et al.
Cancer Discovery|December 5, 2014
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtypeSarah L Sawyer, Lei Tian, Marketta Kähkönen, et al.
Pageof 16