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1 . Academic Journal
Les infections de l’oreille
저자
by
Nowak, Catherine
;
Tanaka, Lei
;
Bobin, Serge
;
Nevoux, Jérôme
.
소스
In
La Presse Médicale
November 2017 46(11):1071-1078
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6 . Academic Journal
A chromosomal deletion leading to BACH2 haploinsufficiency, hypogammaglobulinemia and recurrent infections without intestinal inflammation or autoimmunity
저자
by
van Konijnenburg, David Hoytema
;
Nowak, Catherine
;
Griffith, Alexandra
;
Ouahed, Jodie
;
Henderson, Lauren
, et al.
소스
In
Clinical Immunology
May 2023 250 Supplement
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7 . Academic Journal
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
저자
by
Sobering, Andrew K.
;
Bryant, Laura M.
;
Li, Dong
;
McGaughran, Julie
;
Maystadt, Isabelle
, et al.
소스
In
Human Genetics and Genomics Advances
12 January 2023 4(1)
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7 . Academic Journal
Tuberculosis laríngea
저자
by
Portier, Frédéric
;
Cartry, Fabien
;
Nowak, Catherine
.
소스
In
EMC – Otorrinolaringología
2003 32(3):1-4
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5 . Academic Journal
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
저자
by
Tessadori, Federico
;
Duran, Karen
;
Knapp, Karen
;
Fellner, Matthias
;
Smithson, Sarah
, et al.
소스
American Journal of Human Genetics
. Apr2022, Vol. 109 Issue 4, p750-758. 9p.
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7 . Academic Journal
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome.
저자
by
Sheppard, Sarah E.
;
Campbell, Ian M.
;
Harr, Margaret H.
;
Gold, Nina
;
Li, Dong
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1649-1665, 17p
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7 . Academic Journal
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
저자
by
Shayota, Brian J.
;
Donti, Taraka R.
;
Xiao, Jing
;
Gijavanekar, Charul
;
Kennedy, Adam D.
, et al.
소스
Molecular Genetics & Metabolism
. Sep2020, Vol. 131 Issue 1/2, p147-154. 8p.
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7 . Academic Journal
Why skin is so important for Baha Attract success: A preliminary analysis of the first 20 implantations.
저자
by
Nevoux, Jerome
;
Boulet, Marc
;
Nowak, Catherine
;
Le Pajolec, Christine
;
Coudert, Cyrille
, et al.
소스
Clinical Otolaryngology
. May2019, Vol. 44 Issue 3, p401-405. 5p.
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7 . Academic Journal
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
저자
by
Gkourogianni, Alexandra
;
Andrew, Melissa
;
Tyzinski, Leah
;
Crocker, Melissa
;
Douglas, Jessica
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. Feb 01, 2017 102(2):460-469
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7 . Academic Journal
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
저자
by
Assoum, Mirna
;
Philippe, Christophe
;
Isidor, Bertrand
;
Perrin, Laurence
;
Makrythanasis, Periklis
, et al.
소스
American Journal of Human Genetics
. Dec2016, Vol. 99 Issue 6, p1368-1376. 9p.
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