文献
J-GLOBAL ID:202202234110454765
整理番号:22A0452299
FHAとホスファターゼドメインの両方に影響する変異体と関連したPNKP関連原発性小頭症の出生前表現型【JST・京大機械翻訳】
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
著者 (19件):
Neuser Sonja
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Krey Ilona
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Schwan Annemarie
(MVZ Dr. Eberhard & Partner Dortmund, Dortmund, Germany)
,
Abou Jamra Rami
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Bartolomaeus Tobias
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Doring Jan
(Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany)
,
Syrbe Steffen
(Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany)
,
Plassmann Margit
(Praxis fuer Praenatalmedizin, Dortmund, Germany)
,
Rohde Stefan
(Department of Radiology and Neuroradiology, Klinikum Dortmund, Dortmund, Germany)
,
Roth Christian
(Department for Pediatric Radiology, University of Leipzig Medical Center, Leipzig, Germany)
,
Rehder Helga
(Institute of Medical Genetics, Medical University Vienna, Vienna, Austria)
,
Rehder Helga
(Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany)
,
Radtke Maximilian
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Le Duc Diana
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Schubert Susanna
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Bermudez-Guzman Luis
(Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San Jose, Costa Rica)
,
Leal Alejandro
(Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San Jose, Costa Rica)
,
Schoner Katharina
(Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany)
,
Popp Bernt
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
資料名:
European Journal of Human Genetics
(European Journal of Human Genetics)
巻:
30
号:
1
ページ:
101-110
発行年:
2022年
JST資料番号:
W4344A
ISSN:
1018-4813
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
ドイツ (DEU)
言語:
英語 (EN)