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1 . Academic Journal
MAST1-related mega-corpus-callosum syndrome with central hypogonadism
저자
by
Sloboda, Natacha
;
Renard, Emeline
;
Lambert, Laetitia
;
Bonnet, Céline
;
Leheup, Bruno
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Academic Journal
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
저자
by
Attié-Bitach, Tania
;
Comier-Daire, Valerie
;
Rozet, Jean-Michel
;
Frishberg, Yaacov
;
Llanas, Brigitte
, et al.
소스
In
Kidney International
August 2023 104(2):378-387
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay
저자
by
Rieger, Melissa
;
Moutton, Sébastien
;
Verheyen, Sarah
;
Steindl, Katharina
;
Popp, Bernt
, et al.
소스
In
European Journal of Medical Genetics
January 2023 66(1)
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7 . Academic Journal
Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review
저자
by
Agopiantz, Mikaël
;
Sorlin, Arthur
;
Vabres, Pierre
;
Leheup, Bruno
;
Carmignac, Virginie
, et al.
소스
In
Journal of Gynecology Obstetrics and Human Reproduction
November 2021 50(9)
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7 . Academic Journal
Dermatological opinions are imperative in ambulatory and acute care settings for pediatric skin disorders – HL-SkinPed
저자
by
Moiny-Fouquet, Mathilde
;
Guillaume, Claire
;
Berlengi, Noémie
;
Lapp, Lucie
;
Watelet, Claire
, et al.
소스
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Archives de pédiatrie
July 2021 28(5):417-421
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7 . Academic Journal
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome
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by
Hascoet, Sebastien
;
Edouard, Thomas
;
Plaisancie, Julie
;
Arnoult, Florence
;
Milleron, Olivier
, et al.
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In
Archives of Cardiovascular Diseases
January 2020 113(1):40-49
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7 . Academic Journal
Expanding the genetic and clinical spectrum of Tatton- Brown- Rahman syndrome in a series of 24 French patients.
저자
by
Thomas, Hortense
;
Alix, Tom
;
Renard, Émeline
;
Renaud, Mathilde
;
Wourms, Justine
, et al.
소스
Journal of Medical Genetics; Sep2024, Vol. 61 Issue 9, p878-885, 8p
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7 . Academic Journal
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
저자
by
Blanc, Albin
;
Bonnet, Céline
;
Wandzel, Marion
;
Roth, Virginie
;
Duffourd, Yannis
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-6, 6p
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7 . Academic Journal
McCune–Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases
저자
by
Agopiantz, Mikael
;
Journeau, Pierre
;
Lebon-Labich, Béatrice
;
Sorlin, Arthur
;
Cuny, Thomas
, et al.
소스
In
Annales d'Endocrinologie
February 2016 77(1):7-13
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