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11 .
Don’t miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation
저자
by
Sibylle Zotter
;
Dieter Kotzot
;
Johannes Zschocke
;
Martina Witsch-Baumgartner
;
Edda Haberlandt
.
소스
European Journal of Pediatrics
. 173:1257-1261
Full Text (Springer)
Web of Science
Scopus
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17 .
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
저자
by
Elizabeth A. Slee
;
Aude Vernet
;
Fabrice Prin
;
A T Collins
;
Samuel H. Zinner
, et al.
소스
Open Access (OpenAIRE)
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17 .
Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies
저자
by
Daniela Karall
;
Ana Spreiz
;
Kevin Rostasy
;
C Janetschek
;
Johannes Zschocke
, et al.
소스
Clinical Genetics
. 86:361-366
Web of Science
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17 .
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism
저자
by
Gerd Utermann
;
Dieter Kotzot
;
Albert Amberger
;
Johannes Zschocke
;
Martin Erdel
, et al.
소스
European Journal of Medical Genetics
. 56:383-388
Full Text (Clinical Key)
Web of Science
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17 .
Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation
저자
by
Dieter Kotzot
;
Emanuel Zitt
;
Barbara Obermayer-Pietsch
;
Karl Lhotta
;
Edgar Meusburger
, et al.
소스
Clinical Kidney Journal
Open Access (OpenAIRE)
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17 .
Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells
저자
by
Niklaus Erb
;
Analia Munoz
;
Jean-Louis Blouin
;
Peter Dürig
;
Dieter Kotzot
, et al.
소스
American Journal of Medical Genetics Part A
. 161:1101-1104
Web of Science
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17 .
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation
저자
by
Bianka Baying
;
Jonathon Blake
;
Dieter Kotzot
;
Gerd Utermann
;
Edda Haberlandt
, et al.
소스
European Journal of Human Genetics
. 21:1177-1180
Open Access (OpenAIRE)
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17 .
Interpretation of molecular results in segmental uniparental disomy
저자
by
Edda Haberlandt
;
Dieter Kotzot
.
소스
Hepatology Research
. 42:1150-1153
Web of Science
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14 .
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach
저자
by
Sabine Scholl-Bürgi
;
Luisa Bonafé
;
Daniela Karall
;
Elisabeth Steichen-Gersdorf
;
Julia Wanschitz
, et al.
소스
Scientific Reports
Scientific Reports, vol. 6, pp. 34017
Open Access (OpenAIRE)
Scopus
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17 .
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis
저자
by
Florian Bohne
;
Nadine Bachmann
;
Thorsten Enklaar
;
Kathrin Maurer
;
Dirk Prawitt
, et al.
소스
Pediatric bloodcancer
. 64(3)
Full Text (Wiley)
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