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R

Reginald E. Bittner

Medical University of Vienna
H指数:38
被引数:4,994

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Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome

携带NAA10错义变异p.(L126R)、p.(L126V)或p.(F128L)的女性个体中与NAA10相关综合征相关的表型变异

Molecular and Cellular Pediatrics
IF0
2026-04-130
OA
Buhler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V.; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E.; Lyon, Gholson J.; Kustermann, Monika
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy

PPIB基因中的一个复发性错义变异编码肽基脯氨酰异构酶B，导致成年发病的常染色体显性视神经萎缩。

Genetics in Medicine
IF6.2
2025-10-010
OAAI
Katharina Valentin; Monika Kustermann; Mona R. Schneider; Haleh Aminfar; Kathrin Vollnhofer; Andreas Wedrich; Christoph Stapf; Martin Bertich; Markus Ritter; Theresa Mendrina; Daniel Valcanover; Walter Berger; Margret Eckhard; Andy Sombke; Stephanie V. Lilja; Amina Paquay; Bernhard Rosensteiner; Iris Schmidt; Reginald E. Bittner; Thomas P. Georgi; Berthold Pemp; Wolfgang M. Schmidt
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

双等位基因功能丧失P4HTM基因变异导致肌张力减退、通气不足、智力残疾、自主神经功能异常、癫痫和眼部异常 (hdea综合征)

GENETICS IN MEDICINE
IF6.2
2019-10-0120
OAAI
Rahikkala, Elisa; Myllykoski, Matti; Hinttala, Reetta; Vieira, Paivi; Nayebzadeh, Naemeh; Weiss, Simone; Plomp, Astrid S.; Bittner, Reginald E.; Kurki, Mitja I.; Kuismin, Outi; Lewis, Andrea M.; Vaisanen, Marja-Leena; Kokkonen, Hannaleena; Westermann, Jonne; Bernert, Gunther; Tuominen, Hannu; Palotie, Aarno; Aaltonen, Lauri; Yang, Yaping; Potocki, Lorraine; Moilanen, Jukka; van Koningsbruggen, Silvana; Wang, Xia; Schmidt, Wolfgang M.; Koivunen, Peppi; Uusimaa, Johanna
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

由IV型胶原蛋白基因COL4A6突变引起的新型X连锁非综合征性听力损失伴耳蜗畸形

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2013-05-2965
OAAI
Rost, Simone; Bach, Elisa; Neuner, Cordula; Nanda, Indrajit; Dysek, Sandra; Bittner, Reginald E.; Keller, Alexander; Bartsch, Oliver; Mlynski, Robert; Haaf, Thomas; Mueller, Clemens R.; Kunstmann, Erdmute
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2012-02-01114
OAAI
Baumann, Matthias; Giunta, Cecilia; Krabichler, Birgit; Rueschendorf, Franz; Zoppi, Nicoletta; Colombi, Marina; Bittner, Reginald E.; Quijano-Roy, Susana; Muntoni, Francesco; Cirak, Sebahattin; Schreiber, Gudrun; Zou, Yaqun; Hu, Ying; Romero, Norma Beatriz; Carlier, Robert Yves; Amberger, Albert; Deutschmann, Andrea; Straub, Volker; Rohrbach, Marianne; Steinmann, Beat; Rostasy, Kevin; Karall, Daniela; Boennemann, Carsten G.; Zschocke, Johannes; Fauth, Christine

研究方向

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W
Wolfgang M. Schmidt
H 指数:35论文数:126被引数:3,654
T
Thomas Raffelsberger
H 指数:8论文数:15被引数:597
H
Hans Lassmann
H 指数:165论文数:896被引数:9.7万
W
Walter Rossmanith
H 指数:34论文数:89被引数:5,024
H
Harald Höger
H 指数:34论文数:188被引数:4,400
J
Johannes A. Mayr
H 指数:68论文数:389被引数:1.2万
J
Josef Finsterer
H 指数:62论文数:2,808被引数:1.8万
G
Günther Bernert
H 指数:31论文数:124被引数:3,244
M
Matthias Baumann
H 指数:51论文数:258被引数:9,085
M
Monika Kustermann
H 指数:10论文数:29被引数:641