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1 . Academic Journal
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
저자
by
Ghesh, Leïla
;
Désir, Julie
;
Haye, Damien
;
Le Tanno, Pauline
;
Devillard, Françoise
, et al.
소스
Clinical Genetics
. May2023, Vol. 103 Issue 5, p560-565. 6p.
Web of Science
Scopus
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7 . Academic Journal
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.
저자
by
Le Tanno, Pauline
;
Latypova, Xenia
;
Rendu, John
;
Fauré, Julien
;
Bourg, Véronique
, et al.
소스
Journal of Medical Genetics; Jan2023, Vol. 60 Issue 1, p13-24, 12p
Full Text (BMJ Journals)
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7 . Academic Journal
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
저자
by
Le Tanno, Pauline
;
Folacci, Mathilde
;
Revilloud, Jean
;
Faivre, Laurence
;
Laurent, Gabriel
, et al.
소스
Frontiers in Genetics; 11/25/2021, Vol. 12, p1-11, 11p
Web of Science
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7 . Academic Journal
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.
저자
by
Dieterich, Klaus
;
Le Tanno, Pauline
;
Kimber, Eva
;
Jouk, Pierre‐Simon
;
Hall, Judith
, et al.
소스
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2019, Vol. 181 Issue 3, p337-344, 8p
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7 . Academic Journal
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
저자
by
Kherraf, Zine-Eddine
;
Amiri-Yekta, Amir
;
Dacheux, Denis
;
Karaouzène, Thomas
;
Coutton, Charles
, et al.
소스
American Journal of Human Genetics
. Sep2018, Vol. 103 Issue 3, p400-412. 13p.
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7 . Academic Journal
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
저자
by
Coutton, Charles
;
Vargas, Alexandra S.
;
Amiri-Yekta, Amir
;
Kherraf, Zine-Eddine
;
Ben Mustapha, Selima Fourati
, et al.
소스
Nature Communications; 2/15/2018, Vol. 9 Issue 1, p1-18, 18p
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7 . Academic Journal
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
저자
by
Le Tanno, Pauline
;
Breton, Julie
;
Bidart, Marie
;
Satre, Véronique
;
Harbuz, Radu
, et al.
소스
Journal of Medical Genetics; Jul2017, Vol. 54 Issue 7, p502-510, 9p
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7 .
Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria—Case Report
저자
by
Knapke, Antje
;
Bourdat Michel, Guylhène
;
Marey, Isabelle
;
Le Tanno, Pauline
.
소스
Frontiers in Pediatrics
. 9
Open Access (OpenAIRE)
Scopus
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6 . Academic Journal
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
저자
by
Amiri-Yekta, Amir
;
Coutton, Charles
;
Kherraf, Zine-Eddine
;
Karaouzène, Thomas
;
Le Tanno, Pauline
, et al.
소스
Human Reproduction
. Dec2016, Vol. 31 Issue 12, p2872-2880. 9p. 2 Color Photographs, 1 Illustration, 1 Diagram, 1 Chart.
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7 . Academic Journal
De novoSMARCA2variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
저자
by
Cappuccio, Gerarda
;
Sayou, Camille
;
Le Tanno, Pauline
;
Tisserant, Emilie
;
Bruel, Ange-Line
, et al.
소스
GENETICS IN MEDICINE
; JUL 22 2020, 13p.
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