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1 . Academic Journal
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France
저자
by
Lançon, Allan
;
Beaudouin, Amandine
;
Lambert, Laetitia
;
Baurand, Amandine
;
Petit, Estelle
, et al.
소스
In
European Journal of Medical Genetics
October 2023 66(10)
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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
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
저자
by
Gras, Mathilde
;
Heide, Solveig
;
Keren, Boris
;
Valence, Stéphanie
;
Garel, Catherine
, et al.
소스
Journal of Medical Genetics; Feb2024, Vol. 61 Issue 2, p103-108, 17p
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7 . Academic Journal
ARF1- related disorder: phenotypic and molecular spectrum.
저자
by
de Sainte Agathe, Jean-Madeleine
;
Pode-Shakked, Ben
;
Naudion, Sophie
;
Michaud, Vincent
;
Arveiler, Benoit
, et al.
소스
Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p999-1005, 21p
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7 . Academic Journal
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
저자
by
Nguyen, Toan
;
Heide, Solveig
;
Guilbaud, Lucie
;
Valence, Stéphanie
;
Perre, Saskia Vande
, et al.
소스
Prenatal Diagnosis; Jun2023, Vol. 43 Issue 6, p746-755, 10p
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7 . Academic Journal
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
저자
by
Jacquin, Clémence
;
Landais, Emilie
;
Poirsier, Céline
;
Afenjar, Alexandra
;
Akhavi, Ahmad
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p445-458, 14p
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7 . Academic Journal
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
저자
by
Le Collen, Lauriane
;
Barraud, Sara
;
Braconnier, Antoine
;
Coppin, Lucie
;
Zachar, Dominique
, et al.
소스
Endocrine (1355008X); Sep2021, Vol. 73 Issue 3, p693-701, 9p
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7 . Academic Journal
Report on 3 patients with 12p duplication including GRIN2B
저자
by
Poirsier, Celine
;
Landais, Emilie
;
Bednarek, Nathalie
;
Nobecourt, Jean-Marie
;
Khoury, Maroun
, et al.
소스
In
European Journal of Medical Genetics
April 2014 57(5):185-194
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7 . Periodical
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
저자
by
Tebani, Abdellah
;
Sudrié-Arnaud, Bénédicte
;
Dabaj, Ivana
;
Torre, Stéphanie
;
Domitille, Laur
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 4 p377-384, 8p
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7 . Academic Journal
Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature.
저자
by
Beaudoux, Olivia
;
Lebre, Anne‐Sophie
;
Doco Fenzy, Martine
;
Spodenkiewicz, Marta
;
Canivet, Eric
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p937-944, 8p
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