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1 . Academic Journal
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders
저자
by
Anna Cavalli
;
Stefano Giuseppe Caraffi
;
Susanna Rizzi
;
Gabriele Trimarchi
;
Manuela Napoli
, et al.
소스
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
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7 . Academic Journal
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
저자
by
Benedetta Cavirani
;
Carlotta Spagnoli
;
Stefano Giuseppe Caraffi
;
Anna Cavalli
;
Carlo Alberto Cesaroni
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1248 (2024)
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7 . Academic Journal
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
저자
by
Roberta Zuntini
;
Chiara Cattani
;
Lucia Pedace
;
Evelina Miele
;
Stefano Giuseppe Caraffi
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
저자
by
Carlo Alberto Cesaroni
;
Marzia Pollazzon
;
Cecilia Mancini
;
Susanna Rizzi
;
Camilla Cappelletti
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
저자
by
Ajay X. Thomas
;
Nichole Link
;
Laurie A. Robak
;
Gail Demmler‐Harrison
;
Emily C. Pao
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1276-1288 (2022)
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7 . Academic Journal
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
저자
by
Viola Trevisani
;
Eleonora Balestri
;
Manuela Napoli
;
Stefano Giuseppe Caraffi
;
Maria Chiara Baroni
, et al.
소스
Genes, Vol 14, Iss 9, p 1745 (2023)
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7 . Academic Journal
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
저자
by
Irene Ambrosetti
;
Laura Bernardini
;
Marzia Pollazzon
;
Maria Grazia Giuffrida
;
Valentina Guida
, et al.
소스
Genes, Vol 14, Iss 8, p 1526 (2023)
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7 . Academic Journal
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
저자
by
Emanuele Coccia
;
Lara Valeri
;
Roberta Zuntini
;
Stefano Giuseppe Caraffi
;
Francesca Peluso
, et al.
소스
Genes, Vol 14, Iss 3, p 549 (2023)
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7 . Academic Journal
Mowat-Wilson syndrome: growth charts
저자
by
Ivan Ivanovski
;
Olivera Djuric
;
Serena Broccoli
;
Stefano Giuseppe Caraffi
;
Patrizia Accorsi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
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7 . Academic Journal
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
저자
by
Christel Tran
;
Licia Turolla
;
Diana Ballhausen
;
Sandrine Cornaz Buros
;
Tony Teav
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100777- (2021)
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