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1 . Academic Journal
FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family
저자
by
Ariane Schmetz
;
Jörg Schaper
;
Simon Thelen
;
Majeed Rana
;
Thomas Klenzner
, et al.
소스
Genes, Vol 14, Iss 3, p 724 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery
저자
by
Luisa Averdunk
;
Jürgen Bernhagen
;
Karl Fehnle
;
Harald Surowy
;
Hermann-Josef Lüdecke
, et al.
소스
Journal of Clinical Medicine, Vol 9, Iss 9, p 2936 (2020)
Open Access (DOAJ)
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7 .
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
저자
by
Luisa Averdunk
;
Khalid Al‐Thihli
;
Harald Surowy
;
Hermann‐Josef Lüdecke
;
Matthias Drechsler
, et al.
소스
Clinical Genetics
. 103:484-491
Open Access (OpenAIRE)
Web of Science
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7 .
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
저자
by
Irina Hüning
;
Britta Hanker
;
Dagmar Wieczorek
;
Gabriele Gillessen-Kaesbach
;
Hermann-Josef Lüdecke
.
소스
European Journal of Human Genetics
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7 .
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
저자
by
Mohamed Tohary
;
Fowzan S. Alkuraya
;
Hamad Al-Zaidan
;
Sabine Endele
;
Hossein Najmabadi
, et al.
소스
Journal of Molecular Medicine
. 99:1769-1770
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7 .
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
저자
by
Peter Bauer
;
Nuria C. Bramswig
;
Hartmut Engels
;
Abdelrahim Abdrabou Sadek
;
Hasnaa M. Elbendary
, et al.
소스
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (9), pp.753-768. ⟨10.1007/s00439-018-1929-5⟩
Human Genetics, 2018, 137 (9), pp.753-768. ⟨10.1007/s00439-018-1929-5⟩
Hum. Genet. 137, 753-768 (2018)
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7 .
The Macrophage Migration Inhibitory Factor (MIF) promoter polymorphisms (rs3063368, rs755622) predict acute kidney injury and death after cardiac surgery
저자
by
Karl Fehnle
;
Kai Zacharowski
;
Jürgen Bernhagen
;
Lin Leng
;
David E. Leaf
, et al.
소스
Journal of Clinical Medicine, Vol 9, Iss 2936, p 2936 (2020)
Journal of Clinical Medicine
Volume 9
Issue 9
Open Access (OpenAIRE)
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7 .
De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas
저자
by
M. Zarowiecki
;
A. Devereau
;
S.M. Wood
;
J. M. Boissiere
;
G. Elgar
, et al.
소스
American Journal of Human Genetics, 106(6), 830-845. CELL PRESS
Am J Hum Genet
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7 .
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
저자
by
Eva Rossier
;
Dagmar Wieczorek
;
Jasmin Beygo
;
Sabine Purmann
;
Bernhard Horsthemke
, et al.
소스
European journal of human genetics
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7 .
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
저자
by
Nuria C. Bramswig
;
Francois V. Bolduc
;
Dagmar Wieczorek
;
Harald Surowy
;
Oana Caluseriu
, et al.
소스
Human Genetics
. 136:297-305
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