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21 .
Infantile spasms without hypsarrhythmia and paroxysmal eye-head movements in an infant with a pyridoxine dependent epilepsy due to PLPBP/PLPHP deficiency
저자
by
Kalser, Judith
;
Giuliano, Fabienne
;
Peralta, Maria
;
Plecko, Barbara
;
Bölsterli, Bigna Katrin
, et al.
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27 . Periodical
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20missense variant versus a 3q13.31 microdeletion including ZBTB20
저자
by
Juven, Aurélien
;
Nambot, Sophie
;
Piton, Amélie
;
Jean-Marçais, Nolwenn
;
Masurel, Alice
, et al.
소스
European Journal of Human Genetics: EJHG; August 2020, Vol. 28 Issue: 8 p1044-1055, 12p
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27 . Academic Journal
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
저자
by
Viguier, Agnès
;
Lauwers-Cances, Valérie
;
Cintas, Pascal
;
Manel, Véronique
;
Peudenier, Sylviane
, et al.
소스
Neuromuscular Disorders
. Feb2019, Vol. 29 Issue 2, p114-126. 13p.
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27 . Academic Journal
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
저자
by
Vuillaume, Marie-Laure
;
Moizard, Marie-Pierre
;
Rossignol, Sylvie
;
Cottereau, Edouard
;
Vonwill, Sandrine
, et al.
소스
Human Mutation; Jun2018, Vol. 39 Issue 6, p790-805, 16p
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27 . Academic Journal
Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development
저자
by
Karmous-Benailly, Houda
;
Giuliano, Fabienne
;
Massol, Christophe
;
Bloch, Catherine
;
De Ricaud, Dominique
, et al.
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In
European Journal of Medical Genetics
2006 49(5):431-438
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27 . Academic Journal
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
저자
by
Fry, Andrew E.
;
Fawcett, Katherine A.
;
Zelnik, Nathanel
;
Hongjie Yuan
;
Thompson, Belinda A. N.
, et al.
소스
Brain: A Journal of Neurology
. Mar2018, Vol. 141 Issue 3, p698-712. 15p.
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27 . Periodical
Does ATRXgermline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients
저자
by
Masliah-Planchon, Julien
;
Lévy, Dominique
;
Héron, Delphine
;
Giuliano, Fabienne
;
Badens, Catherine
, et al.
소스
European Journal of Human Genetics: EJHG; August 2018, Vol. 26 Issue: 8 p1217-1221, 5p
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27 . Academic Journal
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
저자
by
Juven, Aurélien
;
Nambot, Sophie
;
Piton, Amélie
;
Jean-Marçais, Nolwenn
;
Masurel, Alice
, et al.
소스
European Journal of Human Genetics
. 28(8):1044-1055
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Scopus
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27 . Periodical
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Denommé-Pichon, Anne-Sophie
;
Matalonga, Leslie
;
de Boer, Elke
;
Jackson, Adam
;
Benetti, Elisa
, et al.
소스
Genetics in Medicine; April 2023, Vol. 25 Issue: 4
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27 . Academic Journal
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
저자
by
Schossig, Anna
;
Bloch-Zupan, Agnès
;
Lussi, Adrian
;
Wolf, Nicole I.
;
Raskin, Salmo
, et al.
소스
Journal of Medical Genetics; Jan2017, Vol. 54 Issue 1, p54-62, 10p
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