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21 .
Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy
저자
by
Klein, Thomas
;
Klug, Katharina
;
Henkel, Lisa
;
Kwok, Chee Keong
;
Edenhofer, Frank
, et al.
소스
In
Stem Cell Research
March 2019 35
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27 .
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5
저자
by
Klein, Thomas
;
Henkel, Lisa
;
Klug, Katharina
;
Kwok, Chee Keong
;
Klopocki, Eva
, et al.
소스
In
Stem Cell Research
December 2018 33:171-174
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27 . Academic Journal
A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.
저자
by
Grimm, Tiemo
;
Garshasbi, Masoud
;
Puettmann, Lucia
;
Chen, Wei
;
Ullmann, Reinhard
, et al.
소스
Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie; 11/11/2020, Vol. 48 Issue 6, p478-489, 12p
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27 . Academic Journal
Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
저자
by
Fischer, Matthias
;
Klopocki, Eva
.
소스
Cytogenetic & Genome Research
. 2020, Vol. 160 Issue 11/12, p659-663. 5p.
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24 . Academic Journal
Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development.
저자
by
Ohlebusch, Barbara
;
Borst, Angela
;
Frankenbach, Tina
;
Klopocki, Eva
;
Jakob, Franz
, et al.
소스
Scientific Reports
. 8/7/2020, Vol. 10 Issue 1, p1-16. 16p.
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27 . Academic Journal
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings
저자
by
Spielmann, Malte
;
Reichelt, Gabriele
;
Hertzberg, Christoph
;
Trimborn, Marc
;
Mundlos, Stefan
, et al.
소스
In
European Journal of Medical Genetics
July-August 2011 54(4):e441-e445
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27 . Academic Journal
An Autosomal-Recessive GFI1B Mutation Defines the Splice Isoform p37 As Essential for Biogenesis of Functional Human Platelets, but Dispensable for Erythropoiesis
저자
by
Schulze, Harald
;
Schlagenhauf, Axel
;
Manukjan, Georgi
;
Beham-Schmid, Christine
;
Andres, Oliver
, et al.
소스
In
Blood
2 December 2016 128(22):2644-2644
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27 . Academic Journal
De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation
저자
by
Dutrannoy, Véronique
;
Klopocki, Eva
;
Wei, Ran
;
Bommer, Christiane
;
Mundlos, Stefan
, et al.
소스
In
European Journal of Medical Genetics
2009 52(6):450-453
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27 . Academic Journal
Characterization of six Merkel cell polyomavirus‐positive Merkel cell carcinoma cell lines: Integration pattern suggest that large T antigen truncating events occur before or during integration.
저자
by
Schrama, David
;
Sarosi, Eva‐Maria
;
Adam, Christian
;
Ritter, Cathrin
;
Kaemmerer, Ulrike
, et al.
소스
International Journal of Cancer; Aug2019, Vol. 145 Issue 4, p1020-1032, 13p
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27 . Academic Journal
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
저자
by
Kolokotronis, Konstantinos
;
Kühnisch, Jirko
;
Klopocki, Eva
;
Dartsch, Josephine
;
Rost, Simone
, et al.
소스
Human Mutation; Aug2019, Vol. 40 Issue 8, p1101-1114, 14p
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