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발행년	- (예 : 2010-2015)

전체선택

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

Academic Journal

Basmanav, F. Buket; Cesarato, Nicole; Kumar, Sheetal; Borisov, Oleg; Kokordelis, Pavlos; Ralser, Damian J.; Wehner, Maria; Axt, Daisy; Xiong, Xing; Thiele, Holger; Dolgin, Vadim; Gossmann, Yasmina; Fricker, Nadine; Dewenter, Malin Katharina; Weller, Karsten; Suri, Mohnish; Reichenbach, Herbert; Oji, Vinzenz; Addor, Marie-Claude; Ramirez, Karla; Stewart, Helen; Bartels, Natalie Garcia; Weibel, Lisa; Wagner, Nicola; George, Susannah; Kilic, Arzu; Tantcheva-Poor, Iliana; Stewart, Alison; Dikow, Nicola; Blaumeiser, Bettina; Medvecz, Marta; Blume-Peytavi, Ulrike; Farrant, Paul; Grimalt, Ramon; Bertok, Sara; Bradley, Lisa; Eskin-Schwartz, Marina; Birk, Ohad Samuel; Bygum, Anette; Simon, Michel; Krawitz, Peter; Fischer, Christine; Hamm, Henning; Fritz, Gunter; Betz, Regina C.

JAMA DERMATOLOGY; AUG 31 2022, 9p.

Full Text (AMA) Web of Science JCR 저널정보 Scopus Find it@PNU

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6

Academic Journal

Gerber, Celine B.; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin-Reina, Purificacion; Mark, Paul R.; Martinez-Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane

CLINICAL GENETICS; JUN 14 2022, 9p.

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6

Electronic Resource

Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; https://orcid.org/0000-0001-8025-0736; Haug, Marte; Hayes, Ian; Marin‐Reina, Purificacion; Mark, Paul R; Martinez‐Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; https://orcid.org/0000-0002-4425-3072; Wiesener, Antje; Zweier, Markus; https://orcid.org/0000-0001-8290-0413; Sticht, Heinrich; https://orcid.org/0000-0001-5644-045X; Zweier, Christiane

Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin‐Reina, Purificacion; Mark, Paul R; Martinez‐Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical Genetics, 102(3):182-190.

Open Access (OAIster)

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6

Academic Journal

Gerber, Celine; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Mark, Paul; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane

EUROPEAN JOURNAL OF HUMAN GENETICS; MAY 11 2023, 31 p459-p460, 2p. Supplement: 1

Full Text (ProQuest Central) Web of Science JCR 저널정보 Find it@PNU

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