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1 . Academic Journal
Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism
저자
by
Carl M. Thielmann
;
Antje Kampmeier
;
Alma Küchler
;
Martin Zenker
;
Ilse Wieland
, et al.
소스
JEADV Clinical Practice, Vol 1, Iss 4, Pp 416-419 (2022)
Open Access (Wiley)
Open Access (DOAJ)
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7 . Academic Journal
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
저자
by
Ilse Wieland
;
Ina Schanze
;
Ina Marianti Felgendreher
;
Winfried Barthlen
;
Silke Vogelgesang
, et al.
소스
Frontiers in Endocrinology, Vol 13 (2022)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome
저자
by
Lea Maria Merz
;
Florian Buerger
;
Niels Ziegelasch
;
Martin Zenker
;
Ilse Wieland
, et al.
소스
Frontiers in Endocrinology, Vol 13 (2022)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia
저자
by
Barbara Molz
;
Anne Herbik
;
Heidi A. Baseler
;
Pieter B. de Best
;
Richard W. Vernon
, et al.
소스
NeuroImage: Clinical, Vol 33, Iss , Pp 102925- (2022)
Full Text (Clinical Key)
Full Text (ScienceDirect)
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia
저자
by
Rebecca Lowndes
;
Barbara Molz
;
Lucy Warriner
;
Anne Herbik
;
Pieter B. de Best
, et al.
소스
Frontiers in Neuroscience, Vol 15 (2021)
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7 . Academic Journal
Possible New Strategies for the Treatment of Congenital Hyperinsulinism
저자
by
Jelena Sikimic
;
Theresa Hoffmeister
;
Anne Gresch
;
Julia Kaiser
;
Winfried Barthlen
, et al.
소스
Frontiers in Endocrinology, Vol 11 (2020)
Open Access (DOAJ)
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7 . Academic Journal
A Postzygotic SMO Mutation Caused the Original Case of Happle–Tinschert Syndrome
저자
by
Martin Zenker
;
Sigrid Tinschert
;
Ilse Wieland
;
Denny Schanze
;
Rudolf Happle
.
소스
Acta Dermato-Venereologica, Vol 98, Iss 5, Pp 534-535 (2018)
Open Access (DOAJ)
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7 . Academic Journal
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)
저자
by
Solveig Schulz
;
Marianne Volleth
;
Petra Muschke
;
Ilse Wieland
;
Peter Wieacker
.
소스
The Application of Clinical Genetics, Vol 2008, Iss default, Pp 19-22 (2008)
Open Access (DOAJ)
Open Access (T&F)
Scopus
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7 .
Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the NF1 Gene in the Osseous Lesion
저자
by
REINHARD E. FRIEDRICH
;
ANDREAS M. LUEBKE
;
ULRICH SCHÜLLER
;
CHRISTIAN HAGEL
;
FELIX K. KOHLRUSCH
, et al.
소스
Anticancer Research
. 42:2945-2952
Web of Science
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7 .
Mosaic
RASopathy
due to
KRAS
variant
G12D
with segmental overgrowth and associated peripheral vascular malformations
저자
by
Martin Zenker
;
Jens Ricke
;
Vanessa Franziska Schmidt
;
Ilse Wieland
;
Moritz Wildgruber
, et al.
소스
American Journal of Medical Genetics Part A
. 185:3122-3128
Open Access (OpenAIRE)
Web of Science
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