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1 . Academic Journal
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
저자
by
Lot Snijders Blok
;
Jolijn Verseput
;
Dmitrijs Rots
;
Hanka Venselaar
;
A. Micheil Innes
, et al.
소스
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
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7 . Academic Journal
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
저자
by
Madelyn A. Gillentine
;
Tianyun Wang
;
Kendra Hoekzema
;
Jill Rosenfeld
;
Pengfei Liu
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
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7 . Academic Journal
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
저자
by
Paolo Grazioli
;
Chiara Parodi
;
Milena Mariani
;
Daniele Bottai
;
Elisabetta Di Fede
, et al.
소스
Cell Death Discovery, Vol 7, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients
저자
by
Erica Rosina
;
Lidia Pezzani
;
Laura Pezzoli
;
Daniela Marchetti
;
Matteo Bellini
, et al.
소스
Genes, Vol 13, Iss 7, p 1275 (2022)
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7 . Academic Journal
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
저자
by
Lidia Pezzani
;
Laura Pezzoli
;
Alessandra Pansa
;
Barbara Facchinetti
;
Daniela Marchetti
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
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7 . Academic Journal
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
저자
by
Laura Pezzoli
;
Lidia Pezzani
;
Ezio Bonanomi
;
Chiara Marrone
;
Agnese Scatigno
, et al.
소스
Journal of Cardiovascular Development and Disease, Vol 9, Iss 1, p 2 (2021)
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7 .
Rock around DYRK1A : Ethnic diversity, clinical challenges
저자
by
Alice Moroni
;
Lidia Pezzani
;
Enrico Alfei
;
Agnese Scatigno
;
Anna Cereda
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1459-1464
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7 .
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients
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by
Cecilia Ghisleni
;
Barbara Parma
;
Paola Cianci
;
Anita De Paoli
;
Elisabetta Pangallo
, et al.
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7 .
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation
저자
by
Angelo Selicorni
;
Francesca Dall'Ara
;
Anna Cereda
;
Milena Mariani
;
Maria Antonella Costantino
, et al.
소스
Journal of Autism and Developmental Disorders
. 52:4763-4773
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7 .
ARF1-related disorder: phenotypic and molecular spectrum
저자
by
Jean-Madeleine de Sainte Agathe
;
Ben Pode-Shakked
;
Sophie Naudion
;
Vincent Michaud
;
Benoit Arveiler
, et al.
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