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1 . Academic Journal
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
저자
by
Jan-Philipp Bodenbender
;
Valerio Marino
;
Julia Philipp
;
Anke Tropitzsch
;
Christoph Kernstock
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
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7 . Academic Journal
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
저자
by
Morad Ansari
;
Kamli N.W. Faour
;
Akiko Shimamura
;
Graeme Grimes
;
Emeline M. Kao
, et al.
소스
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
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7 . Academic Journal
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
저자
by
Joohyun Park
;
Marc Sturm
;
Olga Seibel-Kelemen
;
Stephan Ossowski
;
Tobias B. Haack
.
소스
Genes, Vol 15, Iss 1, p 136 (2024)
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Scopus
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7 . Academic Journal
Unraveling haplotype errors in the DFNA33 locus
저자
by
Barbara Vona
;
Sabrina Regele
;
Aboulfazl Rad
;
Nicola Strenzke
;
Justin A. Pater
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
저자
by
Chiara Diquigiovanni
;
Nicola Rizzardi
;
Antje Kampmeier
;
Irene Liparulo
;
Francesca Bianco
, et al.
소스
Open Biology, Vol 13, Iss 7 (2023)
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7 . Academic Journal
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
저자
by
Neringa Jurkute
;
Francesca Cancellieri
;
Lisa Pohl
;
Catherina H. Z. Li
;
Robert A. Heaton
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
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7 . Academic Journal
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome
저자
by
Dennis Witt
;
Ulrike Faust
;
Gertrud Strobl‐Wildemann
;
Marc Sturm
;
Rebecca Buchert
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
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7 . Academic Journal
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
저자
by
Adam Jackson
;
Sheng-Jia Lin
;
Elizabeth A. Jones
;
Kate E. Chandler
;
David Orr
, et al.
소스
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
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7 . Academic Journal
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
저자
by
Margot A. Cousin
;
Emma L. Veale
;
Nikita R. Dsouza
;
Swarnendu Tripathi
;
Robyn G. Holden
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
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7 . Academic Journal
Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia
저자
by
Jan Niklas Petry-Schmelzer
;
Joohyun Park
;
Tobias B. Haack
;
Veerle Visser-Vandewalle
;
Michael T. Barbe
, et al.
소스
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-4 (2022)
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