المؤلفون: Piero Pavone, Federica Saia, Xena Pappalardo, Massimo Barbagallo, Adriana Prato, Renata Rizzo

المصدر: Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)

مصطلحات موضوعية: Chiari malformation type 1, developmental delay, hydrocephalus, SON gene, Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK), Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/749d71e2659e4e26b93a85d8fac7d1cfTest

المؤلفون: Piero Pavone, Martino Ruggieri, Simona D. Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Praticò, Raffaele Falsaperla

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)

مصطلحات موضوعية: BP3‐BP5 deletion, chromosome 15 q13, developmental delay, language impairment, speech delay, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/7844a4c3d85e47098a766ef09fd592f5Test

المؤلفون: Xena Pappalardo, Gianluca Testa, Rosalia Pellitteri, Paola Dell’Albani, Margherita Rodolico, Vito Pavone, Enrico Parano

المصدر: Children; Volume 10; Issue 1; Pages: 102

مصطلحات موضوعية: bone development, child abuse and maltreatment, early life stress (ELS), epigenetics, genetics, maternal stress, osteoporosis, perinatal stress, postnatal stress, prenatal stress

وصف الملف: application/pdf

العلاقة: Pediatric Orthopedics; https://dx.doi.org/10.3390/children10010102Test

الإتاحة: https://doi.org/10.3390/children10010102Test

المؤلفون: Vito Pavone, Andrea Vescio, Ludovico Lucenti, Mirko Amico, Alessia Caldaci, Xena Pappalardo, Enrico Parano, Gianluca Testa

المصدر: Children; Volume 9; Issue 8; Pages: 1257

مصطلحات موضوعية: child, abuse, maltreatment, neglect, physical, orthopedic

وصف الملف: application/pdf

العلاقة: Pediatric Orthopedics; https://dx.doi.org/10.3390/children9081257Test

الإتاحة: https://doi.org/10.3390/children9081257Test

المؤلفون: Piero Pavone, Federica Saia, Xena Pappalardo, Massimo Barbagallo, Adriana Prato, Renata Rizzo

المصدر: Clinical Case Reports. 10

مصطلحات موضوعية: SON gene, developmental delay, Chiari malformation type 1, General Medicine, Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK), hydrocephalus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3faf92ea12a8def240343651672f8539Test
https://doi.org/10.1002/ccr3.6529Test

المؤلفون: Andrea D. Praticò, Piero Pavone, Catia Romano, Giovanni Corsello, Simona Domenica Marino, Martino Ruggieri, Silvia Marino, Raffaele Falsaperla, Agata Polizzi, Enrico Parano, Xena Giada Pappalardo

المساهمون: Piero Pavone, Martino Ruggieri, Simona D Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Praticò, Raffaele Falsaperla

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
MOLECULAR GENETICS & GENOMIC MEDICINE 8 (2020). doi:10.1002/mgg3.1109
info:cnr-pdr/source/autori:Piero Pavone; Martino Ruggieri; Simona D. Marino; Giovanni Corsello; Xena Pappalardo; Agata Polizzi; Enrico Parano; Catia Romano; Silvia Marino; Andrea Domenico Pratico; Raffaele Falsaperla/titolo:Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy/doi:10.1002%2Fmgg3.1109/rivista:MOLECULAR GENETICS & GENOMIC MEDICINE/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:8
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, speech delay, Adolescent, lcsh:QH426-470, BP3-BP5 deletion, Chromosome Disorders, Locus (genetics), 030105 genetics & heredity, 03 medical and health sciences, Epilepsy, Settore MED/38 - Pediatria Generale E Specialistica, Seizures, Intellectual Disability, Intellectual disability, chromosome 15 q13, Genetics, medicine, Humans, Language Development Disorders, Child, Molecular Biology, Genetics (clinical), Chromosomes, Human, Pair 15, business.industry, Breakpoint, language impairment, Original Articles, medicine.disease, Phenotype, Pedigree, BP3‐BP5 deletion, developmental delay, Language development, lcsh:Genetics, 030104 developmental biology, Speech delay, Autism, Female, Original Article, Chromosome Deletion, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9864cb8496b0d2093efab7e69f6f77c5Test
https://doaj.org/article/7844a4c3d85e47098a766ef09fd592f5Test