Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Courtney, Ells"'
Autor:
Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schütz, Tobias B Haack, Axel Weber, Eleni Biliouri, Mateja Vinkšel, Anja Zagožen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R Mortier
Publikováno v:
Journal of medical genetics
BackgroundCleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df74a3a7a2a5e800f3c1adaa481a1c2
https://lirias.kuleuven.be/handle/20.500.12942/704975
https://lirias.kuleuven.be/handle/20.500.12942/704975
Autor:
Tessi, Beyltjens, Eveline, Boudin, Nicole, Revencu, Nele, Boeckx, Miriam, Bertrand, Leon, Schütz, Tobias B, Haack, Axel, Weber, Eleni, Biliouri, Mateja, Vinkšel, Anja, Zagožen, Borut, Peterlin, Shashidhar, Pai, Aida, Telegrafi, Lindsay B, Henderson, Courtney, Ells, Lesley, Turner, Wim, Wuyts, Wim, Van Hul, Gretl, Hendrickx, Geert R, Mortier
Publikováno v:
Journal of medical genetics.
Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a12df858903a6ee5cc68595bf70993d
https://pubmed.ncbi.nlm.nih.gov/36241386
https://pubmed.ncbi.nlm.nih.gov/36241386
Autor:
D. Sean Froese, Gawa Bidla, Jean-Louis Guéant, Brian M. Gilfix, Avi Saskin, David S. Rosenblatt, Courtney Ells, Matin Kerachian, Karen E. Christensen, David Watkins, Céline Chéry
Publikováno v:
Molecular genetics and metabolism. 130(3)
MTHFD1 is a trifunctional protein containing 10-formyltetrahydrofolate synthetase, 5,10-methenyltetrahydrofolate cyclohydrolase and 5,10-methylenetetrahydrofolate dehydrogenase activities. It is encoded by MTHFD1 and functions in the cytoplasmic fola
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f377896eee8f8ad4f740bc0c7140adc5
https://pubmed.ncbi.nlm.nih.gov/32414565
https://pubmed.ncbi.nlm.nih.gov/32414565