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Author/Creator Triau, Stéphane

1. Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. Issue 2 (13th September 2016)

Authors:
Mary, Laura; Scheidecker, Sophie; Kohler, Monique; Lombardi, Maria‐Paola; Delezoide, Anne‐Lise; Auberger, Elisabeth; Triau, Stéphane; Colin, Estelle; Gerard, Marion; Grzeschik, Karl‐Heinz; Dollfus, Hélène; Antal, Maria Cristina
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 2(2017)
Page Start:
479
Record Type:
Journal Article
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2. Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. Issue 3 (3rd December 2019)

Authors:
Tessarech, Marine; Gorce, Magali; Boussion, Françoise; Bault, Jean‐Philippe; Triau, Stéphane; Charif, Majida; Khiaty, Salim; Delorme, Benoit; Guichet, Agnès; Ziegler, Alban; Bris, Céline; Laquerrière, Annie; Fallet‐Bianco, Catherine; Jacquette, Aurélia; Salhi, Houria; Héron, Delphine; Reynier, Pa...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 3(2020)
Page Start:
565
Record Type:
Journal Article
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3. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. Issue 12 (10th December 2018)

Authors:
Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Assoum, Mirna; Duffourd, Yannis; Masurel, Alice; Baujat, Geneviève; Bessieres, Bettina; Captier, Guillaume; Edery, Patrick; Elçioğlu, Nursel H.; Geneviève, David; Goldenberg, Alice; Héron, Delphine; Grotto, Sarah; Marlin, Sandrine; Putoux, Audre...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2740
Record Type:
Journal Article
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4. Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. Issue 7 (21st April 2022)

Authors:
Lehalle, Daphné; Bruel, Ange‐Line; Vitobello, Antonio; Denommé‐Pichon, Anne‐Sophie; Duffourd, Yannis; Assoum, Mirna; Amiel, Jeanne; Baujat, Geneviève; Bessieres, Bettina; Bigoni, Stefania; Burglen, Lydie; Captier, Guillaume; Dard, Rodolphe; Edery, Patrick; Fortunato, Fernanda; Geneviève, David; G...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 7(2022)
Page Start:
2036
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗