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1 . 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
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
저자
by
Romain Nicolle
;
Nami Altin
;
Karine Siquier-Pernet
;
Sherlina Salignac
;
Pierre Blanc
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (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
Natural history of Myhre syndrome
저자
by
David Dawei Yang
;
Marlene Rio
;
Caroline Michot
;
Nathalie Boddaert
;
Wael Yacoub
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
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7 . Academic Journal
Environmental Antimicrobial Resistance in a Small Urban Mediterranean River: A Focus on Endemic Beta-Lactamases in Clinically Relevant Bacteria
저자
by
Fabien Aujoulat
;
Rose Ragot
;
Mylène Toubiana
;
Chrystelle Bancon-Montigny
;
Patrick Monfort
, et al.
소스
Water, Vol 13, Iss 15, p 2010 (2021)
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7 . Academic Journal
Anatomical and functional abnormalities on MRI in kabuki syndrome
저자
by
Jennifer Boisgontier
;
Jean Marc Tacchella
;
Hervé Lemaître
;
Natacha Lehman
;
Ana Saitovitch
, et al.
소스
NeuroImage: Clinical, Vol 21, Iss , Pp - (2019)
Full Text (ScienceDirect)
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7 . Academic Journal
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
저자
by
Susan M Hiatt
;
Matthew B Neu
;
Ryne C Ramaker
;
Andrew A Hardigan
;
Jeremy W Prokop
, et al.
소스
PLoS Genetics, Vol 14, Iss 11, p e1007671 (2018)
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7 . Academic Journal
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
저자
by
Sara Gonçalves
;
Julie Patat
;
Maria Clara Guida
;
Noelle Lachaussée
;
Christelle Arrondel
, et al.
소스
PLoS Genetics, Vol 14, Iss 10, p e1007748 (2018)
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7 . Academic Journal
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease
저자
by
Sarah Mafi
;
Cécile Laroche-Raynaud
;
Pauline Chazelas
;
Anne-Sophie Lia
;
Paco Derouault
, et al.
소스
Brain Sciences, Vol 10, Iss 11, p 762 (2020)
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7 . Academic Journal
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
저자
by
Sara Gonçalves
;
Julie Patat
;
Maria Clara Guida
;
Noelle Lachaussée
;
Christelle Arrondel
, et al.
소스
PLoS Genetics, Vol 14, Iss 5, p e1007386 (2018)
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