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1 . Periodical
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
저자
by
Martin-Almedina, Silvia
;
Ogmen, Kazim
;
Sackey, Ege
;
Grigoriadis, Dionysios
;
Karapouliou, Christina
, et al.
소스
Genetics in Medicine; July 2021, Vol. 23 Issue: 7 p1315-1324, 10p
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7 . Academic Journal
Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear beta-catenin signaling
저자
by
Nia, Fatemeh Hassani
;
Woike, Daniel
;
Kloth, Katja
;
Kortuem, Fanny
;
Kreienkamp, Hans-Juergen
.
소스
JOURNAL OF NEUROCHEMISTRY
; NOV 2020, 155 3, p250-p263, 14p.
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7 . Academic Journal
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
저자
by
Martin-Almedina, Silvia
;
Ogmen, Kazim
;
Sackey, Ege
;
Grigoriadis, Dionysios
;
Karapouliou, Christina
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(7):1376-1377
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7 . Academic Journal
Cantu syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
저자
by
Kortuem, Fanny
;
Niceta, Marcello
;
Magliozzi, Monia
;
Kubat, Katja Dumic
;
Robertson, Stephen P.
, et al.
소스
EUROPEAN JOURNAL OF MEDICAL GENETICS
; SEP 2020, 63 9, p103996 11p.
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7 . Academic Journal
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
저자
by
Wang, Huijun
;
Humbatova, Aytaj
;
Liu, Yuanxiang
;
Qin, Wen
;
Lee, Mingyang
, et al.
소스
AMERICAN JOURNAL OF HUMAN GENETICS
; JUL 2 2020, 107 1, p34-p45, 12p.
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7 . Academic Journal
Genotype-Phenotype Correlation in Children: The Impact ofFBN1Variants on Pediatric Marfan Care
저자
by
Stark, Veronika C.
;
Hensen, Flemming
;
Kutsche, Kerstin
;
Kortuem, Fanny
;
Olfe, Jakob
, et al.
소스
GENES
; JUL 2020, 11 7, p799 15p.
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7 . Academic Journal
Single-channel properties of skeletal muscle ryanodine receptor pore Delta(FF4924)-F-4923 in two brothers with a lethal form of fetal akinesia
저자
by
Xu, Le
;
Harms, Frederike L.
;
Chirasani, Venkat R.
;
Pasek, Daniel A.
;
Kortuem, Fanny
, et al.
소스
CELL CALCIUM
; MAY 2020, 87 p102182 9p.
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7 . Academic Journal
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
저자
by
Johannsen, Jessika
;
Kortuem, Fanny
;
Rosenberger, Georg
;
Bokelmann, Kristin
;
Schirmer, Markus A.
, et al.
소스
NEUROGENETICS
; AUG 2018, 19 3, p151-p156, 6p.
Scopus
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7 . Academic Journal
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
저자
by
Danyel, Magdalena
;
Kortuem, Fanny
;
Dathe, Katarina
;
Kutsche, Kerstin
;
Horn, Denise
.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; APR 2018, 176 4, p992-p996, 5p.
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7 . Academic Journal
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
저자
by
Knaus, Alexej
;
Pantel, Jean Tori
;
Pendziwiat, Manuela
;
Hajjir, Nurulhuda
;
Zhao, Max
, et al.
소스
GENOME MEDICINE
; JAN 9 2018, 10 p3 13p.
Open Access (BioMed Central)
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