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1 . Academic Journal
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
저자
by
Hammann, Nicole
;
Lenz, Dominic
;
Baric, Ivo
;
Crushell, Ellen
;
Vici, Carlo Dionisi
, et al.
소스
In
Molecular Genetics and Metabolism
March 2024 141(3)
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7 . Academic Journal
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
저자
by
Schuy, Jakob
;
Sæther, Kristine Bilgrav
;
Lisfeld, Jasmin
;
Ek, Marlene
;
Grochowski, Christopher M.
, et al.
소스
In
Genetics in Medicine Open
2024 2
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7 . Academic Journal
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
저자
by
van der Ven, Amelie T.
;
Cabrera-Orefice, Alfredo
;
Wente, Isabell
;
Feichtinger, René G.
;
Tsiakas, Konstantinos
, et al.
소스
In
Molecular Genetics and Metabolism
November 2023 140(3)
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7 . Academic Journal
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
저자
by
Terhal, Paulien
;
Venhuizen, Anton J.
;
Lessel, Davor
;
Tan, Wen-Hann
;
Alswaid, Abdulrahman
, et al.
소스
In
The American Journal of Human Genetics
7 September 2023 110(9):1470-1481
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7 . Academic Journal
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
저자
by
Langhammer, Franziska
;
Maroofian, Reza
;
Badar, Rueda
;
Gregor, Anne
;
Rochman, Michelle
, et al.
소스
In
Genetics in Medicine
August 2023 25(8)
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7 . Academic Journal
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
저자
by
Harms, Frederike L.
;
Dingemans, Alexander J.M.
;
Hempel, Maja
;
Pfundt, Rolph
;
Bierhals, Tatjana
, et al.
소스
In
Genetics in Medicine
July 2023
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7 . Academic Journal
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype
저자
by
Cenni, Camille
;
Andres, Stephanie
;
Hempel, Maja
;
Strom, Tim M.
;
Thomas, Ellen
, et al.
소스
In
European Journal of Medical Genetics
July 2021 64(7)
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7 . Academic Journal
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
저자
by
Accogli, Andrea
;
Park, Young N.
;
Lenk, Guy M.
;
Severino, Mariasavina
;
Scala, Marcello
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
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7 . Periodical
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
저자
by
Schmidt, Axel
;
Danyel, Magdalena
;
Grundmann, Kathrin
;
Brunet, Theresa
;
Klinkhammer, Hannah
, et al.
소스
Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p
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7 . Academic Journal
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
저자
by
Kloth, Katja
;
Denecke, Jonas
;
Hempel, Maja
;
Johannsen, Jessika
;
Strom, Tim M.
, et al.
소스
In
European Journal of Medical Genetics
September 2017 60(9):494-498
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