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1 . Academic Journal
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
저자
by
Elizabeth A. Werren
;
Geneva R. LaForce
;
Anshika Srivastava
;
Delia R. Perillo
;
Shaokun Li
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
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7 . Academic Journal
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome
저자
by
Quentin Hennocq
;
Marjolaine Willems
;
Jeanne Amiel
;
Stéphanie Arpin
;
Tania Attie-Bitach
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
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7 . Academic Journal
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla
저자
by
Aude Tessier
;
Nathalie Roux
;
Lucile Boutaud
;
Elodie Lunel
;
Leila Hakkakian
, et al.
소스
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
저자
by
Quentin Hennocq
;
Thomas Bongibault
;
Sandrine Marlin
;
Jeanne Amiel
;
Tania Attie-Bitach
, et al.
소스
Frontiers in Pediatrics, Vol 11 (2023)
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7 . Academic Journal
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
저자
by
Lauren G. Mascibroda
;
Mohammad Shboul
;
Nathan D. Elrod
;
Laurence Colleaux
;
Hanan Hamamy
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
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7 . Academic Journal
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
저자
by
Frédéric Tran Mau-Them
;
Julian Delanne
;
Anne-Sophie Denommé-Pichon
;
Hana Safraou
;
Ange-Line Bruel
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
저자
by
Yukiko Kurihara
;
Toru Ekimoto
;
Christopher T. Gordon
;
Yasunobu Uchijima
;
Ryo Sugiyama
, et al.
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The Journal of Clinical Investigation, Vol 133, Iss 4 (2023)
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7 . Academic Journal
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients
저자
by
Béatrice Thouvenin
;
Véronique Soupre
;
Marie-Anne Caillaud
;
Charlotte Henry-Mestelan
;
Christel Chalouhi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
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7 . Academic Journal
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
저자
by
Sukhleen Kour
;
Deepa S. Rajan
;
Tyler R. Fortuna
;
Eric N. Anderson
;
Caroline Ward
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
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7 . Academic Journal
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
저자
by
Víctor Faundes
;
Martin D. Jennings
;
Siobhan Crilly
;
Sarah Legraie
;
Sarah E. Withers
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
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