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1 . Academic Journal
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
저자
by
Smolen, Corrine
;
Jensen, Matthew
;
Dyer, Lisa
;
Pizzo, Lucilla
;
Tyryshkina, Anastasia
, et al.
소스
In
The American Journal of Human Genetics
7 December 2023 110(12):2015-2028
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7 . Academic Journal
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
The American Journal of Human Genetics
3 August 2023 110(8):1377-1393
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7 . Academic Journal
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
저자
by
Schön, Michael
;
Lapunzina, Pablo
;
Nevado, Julián
;
Mattina, Teresa
;
Gunnarsson, Cecilia
, et al.
소스
In
European Journal of Medical Genetics
July 2023 66(7)
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7 . Academic Journal
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
저자
by
Gaasterland, C.M.W.
;
Klein Haneveld, M.J.
;
Vyshka, Klea
;
Hugon, A.
;
van Eeghen, A.M.
, et al.
소스
In
European Journal of Medical Genetics
July 2023 66(7)
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7 . Academic Journal
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
저자
by
Errichiello, Edoardo
;
Gorgone, Cristina
;
Giuliano, Loretta
;
Iadarola, Barbara
;
Cosentino, Emanuela
, et al.
소스
In
European Journal of Medical Genetics
June 2018 61(6):335-340
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7 . Academic Journal
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature
저자
by
Recalcati, Maria Paola
;
Bonati, Maria Teresa
;
Beltrami, Nicola
;
Cardarelli, Laura
;
Catusi, Ilaria
, et al.
소스
In
European Journal of Medical Genetics
March 2018 61(3):173-180
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7 . Academic Journal
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
저자
by
Calì, Francesco
;
Chiavetta, Valeria
;
Ruggeri, Giuseppa
;
Piccione, Maria
;
Selicorni, Angelo
, et al.
소스
In
European Journal of Medical Genetics
February 2017 60(2):93-99
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7 . Academic Journal
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.
저자
by
Bonaglia, Maria Clara
;
Salvo, Eliana
;
Sironi, Manuela
;
Bertuzzo, Sara
;
Errichiello, Edoardo
, et al.
소스
Frontiers in Genetics; 2023, p01-09, 9p
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7 . Academic Journal
Mild cystic fibrosis in patients with the rare P5L CFTR mutation
저자
by
Spicuzza, Lucia
;
Sciuto, Concetta
;
Di Dio, Lucia
;
Mattina, Teresa
;
Leonardi, Salvatore
, et al.
소스
In
Journal of Cystic Fibrosis
January 2012 11(1):30-33
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7 . Academic Journal
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association.
저자
by
Pelleri, Maria Chiara
;
Locatelli, Chiara
;
Mattina, Teresa
;
Bonaglia, Maria Clara
;
Piazza, Francesca
, et al.
소스
BMC Medical Genomics
. 12/21/2022, Vol. 15 Issue 1, p1-12. 12p.
Open Access (BioMed Central)
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