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81 .
P06.50B A multi exons deletion in the TANGO2 gene region is a current cause of its functional defect
저자
by
Sara Seneca
;
Hooghe, M. D.
;
Katrien Stouffs
;
Marjan De Rademaeker
;
Mary-Louise Bonduelle
, et al.
소스
Vrije Universiteit Brussel
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87 .
The association of CTDP1 mutation with malformations of cortical development
저자
by
Hamide Yildirim
;
Lisa Kerkhove
;
Boyan Ivanov Dimitrov
;
Elyssa Cannaerts
;
Karen Sermon
, et al.
소스
Vrije Universiteit Brussel
Anna Jansen
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87 .
Dysfunctional CTDP1 impairs the cell cycle indicating its essential role in neurodevelopment
저자
by
Hamide Yildirim
;
Boyan Ivanov Dimitrov
;
Elyssa Cannaerts
;
Karen Sermon
;
Alexander Gheldof
, et al.
소스
Vrije Universiteit Brussel
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87 .
Two years follow up of a patient with a de novo RAC1 gene syndrome
저자
by
Aranza Cortés Jáuregui
;
Boyan Ivanov Dimitrov
;
Katrien Stouffs
;
Kathelijn Keymolen
;
Frederik Hes
, et al.
소스
Vrije Universiteit Brussel
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87 .
Array comparative genomic hybridization in male infertility
저자
by
Björn Menten
;
Annelien Massart
;
Katrien Stouffs
;
Deborah Vandermaelen
;
Willy Lissens
, et al.
소스
Vrije Universiteit Brussel
Open Access (OpenAIRE)
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87 .
P06.27C: Nucleotide analysis of a gene panel involved in Lysosomal Storage Disease (LSD) in patients with a strong clinical suspicion
저자
by
Alexander Gheldof
;
Sara Seneca
;
Katrien Stouffs
;
Martens, G.
;
Linda De Meirleir
, et al.
소스
Vrije Universiteit Brussel
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87 .
A new mutation in the calcium-sensing receptor gene causing hypocalcaemia
저자
by
Schoutteten, M. K.
;
Bert Bravenboer
;
Sara Seneca
;
Katrien Stouffs
;
Brigitte Velkeniers
.
소스
Vrije Universiteit Brussel
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