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1 . Academic Journal
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder
저자
by
Hetzelt, Katalin L.M.L.
;
Kerling, Frank
;
Kraus, Cornelia
;
Rauch, Christophe
;
Thiel, Christian T.
, et al.
소스
In
European Journal of Medical Genetics
January 2021 64(1)
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7 . Academic Journal
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2
저자
by
Hetzelt, Katalin L.M.L.
;
Kraus, Cornelia
;
Kusnik, Stefan
;
Thiel, Christian T.
;
Uebe, Steffen
, et al.
소스
In
European Journal of Medical Genetics
September 2020 63(9)
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7 . Academic Journal
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome
저자
by
Graul-Neumann, Luitgard M.
;
Mensah, Martin A.
;
Klopocki, Eva
;
Uebe, Steffen
;
Ekici, Arif B.
, et al.
소스
In
European Journal of Medical Genetics
July 2018 61(7):363-368
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7 . Academic Journal
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1
저자
by
Popp, Bernt
;
Trollmann, Regina
;
Büttner, Christian
;
Caliebe, Almuth
;
Thiel, Christian T.
, et al.
소스
In
European Journal of Medical Genetics
October 2016 59(10):549-553
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7 . Academic Journal
Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients
저자
by
Türk, Matthias
;
Schröder, Rolf
;
Khuller, Katharina
;
Hofmann, Andreas
;
Berwanger, Carolin
, et al.
소스
In
Neurobiology of Aging
August 2017 56:213-213
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7 . Academic Journal
The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum
저자
by
Thiel, Christian T.
;
Rauch, Anita
.
소스
In
Best Practice & Research Clinical Endocrinology & Metabolism
2011 25(1):131-142
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4 . Academic Journal
Manifestation of epilepsy in a patient with EED‐related overgrowth (Cohen–Gibson syndrome).
저자
by
Hetzelt, Katalin L. M. L.
;
Winterholler, Martin
;
Kerling, Frank
;
Rauch, Christophe
;
Ekici, Arif B.
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p292-297, 6p
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7 . Academic Journal
A novel splice variant expands the LAMC3‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy.
저자
by
Kasper, Burkhard S.
;
Kraus, Cornelia
;
Schwarz, Michael
;
Rösch, Julie
;
Thiel, Christian T.
, et al.
소스
American Journal of Medical Genetics. Part A; Nov2020, Vol. 182 Issue 11, p2761-2764, 4p
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7 . Academic Journal
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
저자
by
Haskamp, Stefan
;
Bruns, Heiko
;
Hahn, Madelaine
;
Hoffmann, Markus
;
Gregor, Anne
, et al.
소스
American Journal of Human Genetics
. Sep2020, Vol. 107 Issue 3, p527-538. 12p.
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7 . Academic Journal
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
저자
by
Vasileiou, Georgia
;
Hoyer, Juliane
;
Thiel, Christian T.
;
Schaefer, Jan
;
Zapke, Maren
, et al.
소스
Prenatal Diagnosis; Nov2019, Vol. 39 Issue 12, p1136-1147, 12p
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