Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Camille Fallot"'
Autor:
Ingrid M. Wentzensen, Patrick Dunn, Caleb Heid, Esperanza Font-Montgomery, Anna Chassevent, Solveig Heide, Vinod K. Misra, Leandra Folk, Wendy K. Chung, Alexandra Afenjar, Sandra Whalen, Suzanne M. Leal, Thomas Smol, Erin Torti, Kathleen Brown, Isabelle Schrauwen, Anushree Acharya, Magali Barth, Mayada Helal, Mélanie Rama, Thomas Courtin, Irma Järvelä, Maura R.Z. Ruzhnikov, Farouq Thabet, Boris Keren, Haluk Kavus, Kara Withrow, J. Austin Hamm, Elizabeth A. Normand, Mitch Cunningham, Constance Smith-Hicks, Camille Fallot, Fanggeng Zou, Abdul Nasir, Donald R. Love, Alban Ziegler
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
BackgroundVariants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57ea74f5fb77388de1042d0f1a0159
https://hal.science/hal-03998194/document
https://hal.science/hal-03998194/document
Autor:
Anushree, Acharya, Haluk, Kavus, Patrick, Dunn, Abdul, Nasir, Leandra, Folk, Kara, Withrow, Ingrid M, Wentzensen, Maura R Z, Ruzhnikov, Camille, Fallot, Thomas, Smol, Mélanie, Rama, Kathleen, Brown, Sandra, Whalen, Alban, Ziegler, Magali, Barth, Anna, Chassevent, Constance, Smith-Hicks, Alexandra, Afenjar, Thomas, Courtin, Solveig, Heide, Esperanza, Font-Montgomery, Caleb, Heid, J Austin, Hamm, Donald R, Love, Farouq, Thabet, Vinod K, Misra, Mitch, Cunningham, Suzanne M, Leal, Irma, Jarvela, Elizabeth A, Normand, Fanggeng, Zou, Mayada, Helal, Boris, Keren, Erin, Torti, Wendy K, Chung, Isabelle, Schrauwen
Publikováno v:
Journal of medical genetics. 59(7)
Variants inMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with aWe identified 13 novel missense variants inWe provide a comprehensive review and expa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9de08ea94e26cd350b69b4c4356e5bd3
https://pubmed.ncbi.nlm.nih.gov/34321324
https://pubmed.ncbi.nlm.nih.gov/34321324
Autor:
Antoine Deschildre, Annie Renard, Stépanie Lejeune, Guillaume Pouessel, Camille Fallot, Marie-Pierre Dupond
Publikováno v:
Pediatric Allergy and Immunology. 28:655-660
The Individual Healthcare Plan (IHP) was implemented in schools in France in 2003 to improve management of allergic children. Our objectives were to assess the practical aspects of IHP (excluding asthma) and allergic reactions occurring at school. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9efc6f52334777ab0168a9f872725230
https://doi.org/10.1111/pai.12795
https://doi.org/10.1111/pai.12795