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1 . Academic Journal
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay
저자
by
Rieger, Melissa
;
Moutton, Sébastien
;
Verheyen, Sarah
;
Steindl, Katharina
;
Popp, Bernt
, et al.
소스
In
European Journal of Medical Genetics
January 2023 66(1)
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7 . Academic Journal
A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers
저자
by
Begemann, Anaïs
;
Oneda, Beatrice
;
Baumer, Alessandra
;
Guldimann, Marina
;
Tutschek, Boris
, et al.
소스
In
European Journal of Medical Genetics
December 2022 65(12)
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7 . Academic Journal
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
저자
by
Škorić-Milosavljević, Doris
;
Lahrouchi, Najim
;
Bosada, Fernanda M.
;
Dombrowsky, Gregor
;
Williams, Simon G.
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1952-1960
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7 . Academic Journal
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing
저자
by
Oneda, Beatrice
;
Sirleto, Pietro
;
Baldinger, Rosa
;
Taralczak, Malgorzata
;
Joset, Pascal
, et al.
소스
In
European Journal of Obstetrics & Gynecology and Reproductive Biology
September 2020 252:19-29
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7 . Academic Journal
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
저자
by
Pena, Loren
;
Shashi, Vandana
;
Schoch, Kelly
;
Sullivan, Jennifer A.
;
Acosta, Maria T.
, et al.
소스
In
Biological Psychiatry
15 January 2020 87(2):100-112
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7 . Academic Journal
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency
저자
by
Wallis, Mathew
;
Baumer, Alessandra
;
Smaili, Wiam
;
Jaouad, Imane Cherkaoui
;
Sefiani, Abdelaziz
, et al.
소스
In
European Journal of Medical Genetics
April 2018 61(4):189-196
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7 . Academic Journal
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
저자
by
Asadollahi, Reza
;
Zweier, Markus
;
Gogoll, Laura
;
Schiffmann, Raphael
;
Sticht, Heinrich
, et al.
소스
In
European Journal of Medical Genetics
September 2017 60(9):451-464
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7 . Academic Journal
Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor.
저자
by
Meier‐Abt, Fabienne
;
Kraemer, Dennis
;
Braun, Nils
;
Reinehr, Michael
;
Stutz‐Grunder, Eveline
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-5, 5p
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7 . Academic Journal
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
저자
by
Nashabat, Marwan
;
Nabavizadeh, Nasrinsadat
;
Saraçoğlu, Hilal Pırıl
;
Sarıbaş, Burak
;
Avcı, Şahin
, et al.
소스
Nature Communications; 2/27/2024, Vol. 15 Issue 1, p1-19, 19p
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7 . Academic Journal
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
저자
by
Snijders Blok, Lot
;
Verseput, Jolijn
;
Rots, Dmitrijs
;
Venselaar, Hanka
;
Innes, A. Micheil
, et al.
소스
In
Human Genetics and Genomics Advances
12 January 2023 4(1)
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