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1 . Periodical
Hypomorphic pathogenic variant in SFTPBleads to adult pulmonary fibrosis
저자
by
Desroziers, Tifenn
;
Prévot, Grégoire
;
Coulomb, Aurore
;
Nau, Valérie
;
Dastot-Le Moal, Florence
, et al.
소스
European Journal of Human Genetics: EJHG; September 2023, Vol. 31 Issue: 9 p1083-1087, 5p
Web of Science
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7 . Academic Journal
Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome
저자
by
Bassez, Guillaume
;
Camand, Olivier J.A
;
Cacheux, Valère
;
Kobetz, Alexandra
;
Dastot-Le Moal, Florence
, et al.
소스
In
Neurobiology of Disease
2004 15(2):240-250
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7 . Academic Journal
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
저자
by
Desroziers, Tifenn
;
Prévot, Grégoire
;
Coulomb, Aurore
;
Nau, Valérie
;
Dastot-Le Moal, Florence
, et al.
소스
European Journal of Human Genetics
. 31(9):1083-1087
Web of Science
Scopus
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7 . Academic Journal
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer
저자
by
Legendre, Marie
;
Butt, Afifaa
;
Borie, Raphael
;
Debray, Marie-Pierre
;
Bouvry, Diane
, et al.
소스
EUROPEAN RESPIRATORY JOURNAL
; DEC 1 2020, 56 6, p2002806 16p.
Web of Science
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7 . Academic Journal
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
저자
by
El Khouri, Elma
;
Thomas, Lucie
;
Jeanson, Ludovic
;
Bequignon, Emilie
;
Vallette, Benoit
, et al.
소스
American Journal of Human Genetics
. Aug2016, Vol. 99 Issue 2, p489-500. 12p.
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7 . Academic Journal
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
저자
by
Jeanson, Ludovic
;
Thomas, Lucie
;
Copin, Bruno
;
Coste, André
;
Sermet‐Gaudelus, Isabelle
, et al.
소스
Human Mutation; Aug2016, Vol. 37 Issue 8, p776-785, 10p
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7 . Academic Journal
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
저자
by
Jeanson, Ludovic
;
Copin, Bruno
;
Papon, Jean-François
;
Dastot-Le Moal, Florence
;
Duquesnoy, Philippe
, et al.
소스
American Journal of Human Genetics
. Jul2015, Vol. 97 Issue 1, p153-162. 10p.
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7 . Academic Journal
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders.
저자
by
Jéru, Isabelle
;
Cochet, Emmanuelle
;
Duquesnoy, Philippe
;
Hentgen, Véronique
;
Copin, Bruno
, et al.
소스
Arthritis & Rheumatology
. Sep2014, Vol. 66 Issue 9, p2621-2627. 7p.
Full Text (Wiley)
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7 . Academic Journal
Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
저자
by
Kott, Esther
;
Duquesnoy, Philippe
;
Copin, Bruno
;
Legendre, Marie
;
Dastot-Le Moal, Florence
, et al.
소스
American Journal of Human Genetics
. Nov2012, Vol. 91 Issue 5, p958-964. 7p.
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7 . Academic Journal
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder
저자
by
Jéru, Isabelle
;
Marlin, Sandrine
;
Le Borgne, Gaëlle
;
Cochet, Emmanuelle
;
Normand, Sylvain
, et al.
소스
Arthritis & Rheumatism
. Apr 01, 2010 62(4):1176-1185
Scopus
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