Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marie Injeyan"'
Autor:
Cécile Jeanpierre, Vincent Jung, Aurore Pouliet, Katta M. Girisha, Alexandre Benmerah, Camille Humbert, Charlotte Mechler, Sophie Saunier, Ida Chiara Guerrera, Patrick Nitschke, Kathryn Millar, Quentin Siour, Meriem Garfa-Traore, Anju Shukla, Céline Huber, Marion Delous, Esben Lorentzen, David Chitayat, Marie Alice Dupont, Anni Christensen, Marie Injeyan, Valérie Cormier-Daire, Patrick Shannon
Publikováno v:
Human Molecular Genetics. 28:2720-2737
Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have previously been associated with a spectrum of diseases collectively termed ciliopathies. Ciliopathies relate to defects in the formation or function of the ci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e34ce75ef366654c93a4fea8918ef20
https://doi.org/10.1093/hmg/ddz091
https://doi.org/10.1093/hmg/ddz091
Publikováno v:
Prenatal Diagnosis. 38:117-122
Objective Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of nonisolated CDH with SGBS type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db25befec96563239d10109d9378064f
https://doi.org/10.1002/pd.5198
https://doi.org/10.1002/pd.5198
Autor:
Sandra Darilek, Victoria Mok Siu, Carrie A. Mohila, Patrick Shannon, Ebba Alkhunaizi, Anne-Marie Laberge, Catherine Fallet-Bianco, Julianne Zandberg, Marie Injeyan, David Chitayat, Benjamin Ellezam, Shirley Shuster, Sarah Boissel, Lili-Naz Hazrati, Fadi F. Hamdan
Publikováno v:
Paediatrics Publications
The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryano
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad4d7ba40c155ec37ad4f901b4869123
https://ir.lib.uwo.ca/paedpub/386
https://ir.lib.uwo.ca/paedpub/386
Publikováno v:
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology. 38(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9950ec51c37b4a05e574d6640b3321
https://pubmed.ncbi.nlm.nih.gov/29046114
https://pubmed.ncbi.nlm.nih.gov/29046114
Autor:
Michal, Feingold-Zadok, David, Chitayat, Karen, Chong, Marie, Injeyan, Patrick, Shannon, Daphne, Chapmann, Ron, Maymon, Nir, Pillar, Orit, Reish
Publikováno v:
Prenatal diagnosis. 37(2)
We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene.We pathologically assessed seven cases from t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ecd2b1ed319f78d9e46dc3646d1499ff
https://pubmed.ncbi.nlm.nih.gov/27933661
https://pubmed.ncbi.nlm.nih.gov/27933661
Autor:
Derek Stephens, David Chitayat, Marie Injeyan, Karen Sappleton, Cheryl Shuman, Brittney Johnstone, Amy S Kaiser
Publikováno v:
Journal of genetic counseling. 25(4)
Burnout represents a critical disruption in an individual’s relationship with work, resulting in a state of exhaustion in which one’s occupational value and capacity to perform are questioned. Burnout can negatively affect an individual’s perso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1405ed956d16b2bf287096ae3025204e
https://pubmed.ncbi.nlm.nih.gov/27228983
https://pubmed.ncbi.nlm.nih.gov/27228983
Publikováno v:
Journal of genetic counseling. 20(5)
Compassion fatigue (CMF) arises as a consequence of secondary exposure to distress and can be elevated in some health practitioners. Locus of control and dispositional optimism are aspects of personality known to influence coping style. To investigat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e34832466bce4a50092523600f0075d
https://pubmed.ncbi.nlm.nih.gov/21701957
https://pubmed.ncbi.nlm.nih.gov/21701957