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1 . Academic Journal
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
저자
by
Maas, Saskia M.
;
Shaw, Adam C.
;
Bikker, Hennie
;
Lüdecke, Hermann-Josef
;
van der Tuin, Karin
, et al.
소스
In
European Journal of Medical Genetics
May 2015 58(5):279-292
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7 . Academic Journal
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals.
저자
by
Schmetz, Ariane
;
Lüdecke, Hermann-Josef
;
Surowy, Harald
;
Sivalingam, Sugirtahn
;
Bruel, Ange-Line
, et al.
소스
Human Genetics
. Jan2024, Vol. 143 Issue 1, p71-84. 14p.
Web of Science
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7 . Academic Journal
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
저자
by
Rué, Marjory
;
Lüdecke, Hermann-Josef
;
Sibon, Igor
;
Richez, Christophe
;
Taine, Laurence
, et al.
소스
In
European Journal of Medical Genetics
July-August 2011 54(4):e405-e408
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7 . Academic Journal
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
저자
by
Averdunk, Luisa
;
Al‐Thihli, Khalid
;
Surowy, Harald
;
Lüdecke, Hermann‐Josef
;
Drechsler, Matthias
, et al.
소스
Clinical Genetics
. Apr2023, Vol. 103 Issue 4, p484-491. 8p.
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7 . Academic Journal
FGF9 -Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.
저자
by
Schmetz, Ariane
;
Schaper, Jörg
;
Thelen, Simon
;
Rana, Majeed
;
Klenzner, Thomas
, et al.
소스
Genes
. Mar2023, Vol. 14 Issue 3, p724. 12p.
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7 . Academic Journal
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
저자
by
Averdunk, Luisa
;
Sticht, Heinrich
;
Surowy, Harald
;
Lüdecke, Hermann-Josef
;
Koch-Hogrebe, Margarete
, et al.
소스
Journal of Molecular Medicine
. Dec2021, Vol. 99 Issue 12, p1755-1768. 14p.
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7 . Academic Journal
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
저자
by
Czeschik, Johanna Christina
;
Hehr, Ute
;
Hartmann, Britta
;
Lüdecke, Hermann-Josef
;
Rosenbaum, Thorsten
, et al.
소스
In
European Journal of Medical Genetics
December 2013 56(12):689-694
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7 . Academic Journal
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
저자
by
Tolchin, Dara
;
Yeager, Jessica P.
;
Prasad, Priya
;
Dorrani, Naghmeh
;
Russi, Alvaro Serrano
, et al.
소스
American Journal of Human Genetics
. Jun2020, Vol. 106 Issue 6, p830-845. 16p.
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7 . Academic Journal
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
저자
by
Hanker, Britta
;
Gillessen-Kaesbach, Gabriele
;
Hüning, Irina
;
Lüdecke, Hermann-Josef
;
Wieczorek, Dagmar
.
소스
European Journal of Human Genetics
. 30(1):126-132
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7 . Periodical
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11missense variant
저자
by
Hanker, Britta
;
Gillessen-Kaesbach, Gabriele
;
Hüning, Irina
;
Lüdecke, Hermann-Josef
;
Wieczorek, Dagmar
.
소스
European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-7, 7p
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