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1 . Academic Journal
Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient.
저자
by
Gschwind, Markus
;
Garcia Segarra, Nuria
;
Schaller, André
;
Bolognini, Ramona
;
Nuoffer, Jean‐Marc
, et al.
소스
Annals of Clinical & Translational Neurology
. Jun2022, Vol. 9 Issue 6, p888-892. 5p.
Open Access (Wiley)
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7 . Academic Journal
Long-term liver disease in methylmalonic and propionic acidemias.
저자
by
Imbard, Apolline
;
Garcia Segarra, Nuria
;
Tardieu, Marine
;
Broué, Pierre
;
Bouchereau, Juliette
, et al.
소스
Molecular Genetics & Metabolism
. Apr2018, Vol. 123 Issue 4, p433-440. 8p.
Full Text (ScienceDirect)
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7 . Academic Journal
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
저자
by
Bacci, Giacomo M.
;
Donati, Maria A.
;
Pasquini, Elisabetta
;
Munier, Francis
;
Cavicchi, Catia
, et al.
소스
Acta Ophthalmologica (1755375X)
. Dec2017, Vol. 95 Issue 8, pe776-e782. 7p.
Full Text (Wiley)
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7 . Academic Journal
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
저자
by
Sass, Jörn Oliver
;
Gemperle-Britschgi, Corinne
;
Tarailo-Graovac, Maja
;
Patel, Nisha
;
Walter, Melanie
, et al.
소스
Molecular Genetics & Metabolism
. Sep2016, Vol. 119 Issue 1/2, p44-49. 6p.
Full Text (ScienceDirect)
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7 . Academic Journal
Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution.
저자
by
Ivanyuk, Anton
;
García Segarra, Nuria
;
Buclin, Thierry
;
Klein, Andrea
;
Jacquier, David
, et al.
소스
Neuromuscular Disorders
. Oct2018, Vol. 28 Issue 10, p865-867. 3p.
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7 . Academic Journal
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
저자
by
García Segarra, Nuria
;
Gautschi, Ivan
;
Mittaz-Crettol, Laureane
;
Kallay Zetchi, Christine
;
Al-Qusairi, Lama
, et al.
소스
Journal of the Neurological Sciences
. Jul2014, Vol. 342 Issue 1/2, p69-78. 10p.
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7 . Periodical
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3mutations in 63 affected individuals
저자
by
Garcia Segarra, Nuria
;
Mittaz, Laureane
;
Campos‐Xavier, Ana Belinda
;
Bartels, Cynthia F.
;
Tuysuz, Beyhan
, et al.
소스
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; August 2012, Vol. 160 Issue: 3 p217-229, 13p
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