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1 . Academic Journal
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy
저자
by
Kurth, Ingo
;
Baumgartner, Manuela
;
Schabhuettl, Maria
;
Tomni, Cecilia
;
Windhager, Reinhard
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
; SEP 2016, 171 6, p875-p878, 4p.
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7 . Academic Journal
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
저자
by
Auer-Grumbach, Michaela
;
Toegel, Stefan
;
Schabhuettl, Maria
;
Weinmann, Daniela
;
Chiari, Catharina
, et al.
소스
AMERICAN JOURNAL OF HUMAN GENETICS
; SEP 1 2016, 99 3, p607-p623, 17p.
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7 . Academic Journal
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
저자
by
Strickland, Alleene V.
;
Schabhuettl, Maria
;
Offenbacher, Hans
;
Synofzik, Matthis
;
Hauser, Natalie S.
, et al.
소스
JOURNAL OF NEUROLOGY
; SEP 2015, 262 9, p2124-p2134, 11p.
Scopus
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7 . Academic Journal
Transcriptional regulator PRDM12 is essential for human pain perception
저자
by
Chen, Ya-Chun
;
Auer-Grumbach, Michaela
;
Matsukawa, Shinya
;
Zitzelsberger, Manuela
;
Themistocleous, Andreas C.
, et al.
소스
NATURE GENETICS
; JUL 2015, 47 7, p803-p+, 9p.
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7 . Academic Journal
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges
저자
by
Schabhuettl, Maria
;
Wieland, Thomas
;
Senderek, Jan
;
Baets, Jonathan
;
Timmerman, Vincent
, et al.
소스
JOURNAL OF NEUROLOGY
; MAY 2014, 261 5, p970-p982, 13p.
Full Text (Springer)
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7 . Academic Journal
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
저자
by
Auer-Grumbach, Michaela
;
Bode, Heiko
;
Pieber, Thomas R.
;
Schabhuettl, Maria
;
Fischer, Dirk
, et al.
소스
EUROPEAN JOURNAL OF MEDICAL GENETICS
; MAY 2013, 56 5, p266-p269, 4p.
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7 . Academic Journal
Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V
저자
by
Beetz, Christian
;
Pieber, Thomas R.
;
Hertel, Nicole
;
Schabhuettl, Maria
;
Fischer, Carina
, et al.
소스
AMERICAN JOURNAL OF HUMAN GENETICS
; JUL 13 2012, 91 1, p139-p145, 7p.
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7 . Academic Journal
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
저자
by
Fischer, Carina
;
Trajanoski, Slave
;
Papic, Lea
;
Windpassinger, Christian
;
Bernert, Guenther
, et al.
소스
JOURNAL OF NEUROLOGY
; MAR 2012, 259 3, p515-p523, 9p.
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7 . Academic Journal
SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
저자
by
Papic, Lea
;
Fischer, Dirk
;
Trajanoski, Slave
;
Hoeftberger, Romana
;
Fischer, Carina
, et al.
소스
EUROPEAN JOURNAL OF MEDICAL GENETICS
; MAY-JUN 2011, 54 3, p214-p219, 6p.
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7 . Academic Journal
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
저자
by
Guelly, Christian
;
Zhu, Peng-Peng
;
Leonardis, Lea
;
Papic, Lea
;
Zidar, Janez
, et al.
소스
AMERICAN JOURNAL OF HUMAN GENETICS
; JAN 7 2011, 88 1, p99-p105, 7p.
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