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1 . Academic Journal
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
저자
by
Waterham, Hans R.
;
Koster, Janet
;
Ebberink, Merel S.
;
Ješina, Pavel
;
Zeman, Jiri
, et al.
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In
Genetics in Medicine
November 2023 25(11)
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7 . Academic Journal
A meal rich in palm oil or butter modifies the sphingolipid profile of postprandial triglyceride-rich lipoproteins from type 2 diabetic women
저자
by
Boulet, Marie Michèle
;
Calzada, Catherine
;
Pettazzoni, Magali
;
Lelekov-Boissard, Taïssia
;
Buisson, Charline
, et al.
소스
In
Biochimie
December 2022 203:11-19
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7 . Academic Journal
Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results
저자
by
Thomas, Caroline
;
Durand-Zaleski, Isabelle
;
Frenkiel, Jérôme
;
Mirallié, Sophie
;
Léger, Alexandra
, et al.
소스
In
Clinical Immunology
May 2019 202:33-39
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7 . Academic Journal
Polar lipid composition of bioactive dairy co-products buttermilk and butterserum: Emphasis on sphingolipid and ceramide isoforms
저자
by
Bourlieu, Claire
;
Cheillan, David
;
Blot, Marielle
;
Daira, Patricia
;
Trauchessec, Michèle
, et al.
소스
In
Food Chemistry
1 February 2018 240:67-74
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7 . Primary Source
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations
저자
by
Bonnot Ruget, Mathilde
;
Moulin, Philippe
;
Pagan, Cécile
;
Cheillan, David
;
Marmontel, Oriane
, et al.
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Clinical Chemistry and Laboratory Medicine (CCLM)
.
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7 . Academic Journal
Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis
저자
by
Barry, Yaya
;
Bonaldi, Christophe
;
Goulet, Véronique
;
Coutant, Régis
;
Léger, Juliane
, et al.
소스
In
Annals of Epidemiology
February 2016 26(2):100-105
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7 . Academic Journal
Neonatal screening for cystic fibrosis: Comparing the performances of IRT/DNA and IRT/PAP
저자
by
Sarles, Jacques
;
Giorgi, Roch
;
Berthézène, Patrice
;
Munck, Anne
;
Cheillan, David
, et al.
소스
In
Journal of Cystic Fibrosis
July 2014 13(4):384-390
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7 . Academic Journal
Heterozygous SPTLC1 p.Leu39del is a major cause of slow- progressing juvenile ALS.
저자
by
Guissart, Claire
;
De la Cruz, Elisa
;
Flabeau, Olivier
;
Grapperon, Aude-Marie
;
Corazza, Giovanni
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry; Mar2024, Vol. 95 Issue 3, p288-290, 3p
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7 . Academic Journal
A Meal Rich in Palm Oil or Butter Modifies the Sphingolipid Profile of Postprandial Triglyceride-Rich Lipoproteins From Type 2 Diabetic Patients
저자
by
Michalski, Marie-Caroline
;
Calzada, Catherine
;
Cheillan, David
;
Moulin, Philippe
;
Nazare, Julie-Anne
, et al.
소스
In
Current Developments in Nutrition
June 2022 6 Supplement 1:450-450
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7 . Academic Journal
A new mutation in COG7 extends the spectrum of COG subunit deficiencies
저자
by
Zeevaert, Renate
;
Foulquier, François
;
Cheillan, David
;
Cloix, Isabelle
;
Guffon, Nathalie
, et al.
소스
In
European Journal of Medical Genetics
2009 52(5):303-305
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