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1 . Academic Journal
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
저자
by
Lauriane Le Collen
;
Brigitte Delemer
;
Marta Spodenkiewicz
;
Pascale Cornillet Lefebvre
;
Emmanuelle Durand
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Clinical Genetics of Prolidase Deficiency: An Updated Review
저자
by
Marta Spodenkiewicz
;
Michel Spodenkiewicz
;
Maureen Cleary
;
Marie Massier
;
Giorgos Fitsialos
, et al.
소스
Biology, Vol 9, Iss 5, p 108 (2020)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis
저자
by
Marta Spodenkiewicz
;
Carmen Diez-Fernandez
;
Véronique Rüfenacht
;
Corinne Gemperle-Britschgi
;
Johannes Häberle
.
소스
Biology, Vol 5, Iss 4, p 40 (2016)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
저자
by
Clémence Jacquin
;
Emilie Landais
;
Céline Poirsier
;
Alexandra Afenjar
;
Ahmad Akhavi
, et al.
소스
American journal of medical genetics. Part AREFERENCES
.
Open Access (OpenAIRE)
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7 .
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
저자
by
Guillaume Jouret
;
Matthieu Egloff
;
Emilie Landais
;
Olivier Tassy
;
Fabienne Giuliano
, et al.
소스
American journal of medical genetics. Part AREFERENCES
. 191(1)
Scopus
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7 .
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
저자
by
Tiffany Busa
;
Anaïs Brassier
;
Agathe Roubertie
;
Bénédicte Héron
;
M. Tardieu
, et al.
소스
Journal of Medical Genetics
. 59:377-384
Full Text (BMJ Journals)
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7 .
Adult diagnosis of
Townes–Brocks
syndrome with renal failure: Two related cases and review of literature
저자
by
Martine Doco Fenzy
;
Anne-Sophie Lebre
;
Olivia Beaudoux
;
Céline Poirsier
;
Eric Canivet
, et al.
소스
American Journal of Medical Genetics Part A
. 185:937-944
Web of Science
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7 .
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
저자
by
Christian Lavigne
;
Lena Damaj
;
Esther Noel
;
François Maillot
;
Sybill Charriere
, et al.
소스
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, ⟨10.1002/jimd.12403⟩
Open Access (OpenAIRE)
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7 .
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features
저자
by
Antoine Braconnier
;
Dominique Zachar
;
Sophie Deguelte
;
Lucie Coppin
;
Céline Poirsier
, et al.
소스
Endocrine
Endocrine, Springer, 2021, 73, pp.693-701. ⟨10.1007/s12020-021-02756-4⟩
Scopus
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7 .
Case Report of a large family with hyperparathyroidism- jaw tumor syndrome (HPT-JT) and a deletion of the third exon of CDC73
저자
by
Antoine Braconnier
;
Odou Marie Francoise
;
Brigitte Delemer
;
Marta Spodenkiewicz
;
Mohamad Zalzali
, et al.
소스
Endocrine Abstracts
.
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