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1 . Academic Journal
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations
저자
by
Isaac Maximiliano Bugueno
;
Tristan Rey
;
Alexandra Jimenez-Armijo
;
Marzena Kawczynski
;
Naji Kharouf
, et al.
소스
Genes and Diseases, Vol 11, Iss 5, Pp 101303- (2024)
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7 . Academic Journal
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification
저자
by
Agnes Bloch-Zupan
;
Tristan Rey
;
Alexandra Jimenez-Armijo
;
Marzena Kawczynski
;
Naji Kharouf
, et al.
소스
Frontiers in Physiology, Vol 14 (2023)
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7 . Academic Journal
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome
저자
by
Florent Colin
;
Pauline Burger
;
Timothée Mazzucotelli
;
Axelle Strehle
;
Joost Kummeling
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100817- (2023)
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7 . Academic Journal
A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report
저자
by
Alexandra Jimenez-Armijo
;
Khadja Oumensour
;
Bouchra Bousfiha
;
Tristan Rey
;
Virginie Laugel-Haushalter
, et al.
소스
Frontiers in Dental Medicine, Vol 2 (2021)
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7 . Academic Journal
COVID-19 and Dentistry in 72 Questions: An Overview of the Literature
저자
by
Stéphane Derruau
;
Jérôme Bouchet
;
Ali Nassif
;
Alexandre Baudet
;
Kazutoyo Yasukawa
, et al.
소스
Journal of Clinical Medicine, Vol 10, Iss 4, p 779 (2021)
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7 . Academic Journal
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
저자
by
Virginie Laugel-Haushalter
;
Séverine Bär
;
Elise Schaefer
;
Corinne Stoetzel
;
Véronique Geoffroy
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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7 . Academic Journal
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
저자
by
Virginie Laugel-Haushalter
;
Supawich Morkmued
;
Corinne Stoetzel
;
Véronique Geoffroy
;
Jean Muller
, et al.
소스
Frontiers in Physiology, Vol 9 (2018)
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7 . Academic Journal
Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review
저자
by
Jane Hejlesen
;
Line Underbjerg
;
Hans Gjørup
;
Agnes Bloch-Zupan
;
Tanja Sikjaer
, et al.
소스
Frontiers in Physiology, Vol 9 (2018)
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7 . Academic Journal
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta
저자
by
Barbara Gasse
;
Megana Prasad
;
Sidney Delgado
;
Mathilde Huckert
;
Marzena Kawczynski
, et al.
소스
Frontiers in Physiology, Vol 8 (2017)
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7 . Academic Journal
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
저자
by
Agnes BLOCH-ZUPAN
.
소스
Frontiers in Physiology, Vol 7 (2016)
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