Results 81 to 90 of about 134,101 (300)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Language maintenance and change: fricative sibilants in Galician

Revista de Filología Románica, 2016
The language of rural communities is under great pressure to change, both by the presence of the standard language as, in the case of Galicia, of the Spanish language.
Xosé Luís Regueira
doaj   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Introduzione. La lingua come cultura

, 2009
presentazione del concetto di lingua come ...
MATERA, VINCENZO
core  

A trindade de Pedro Garcia de Ambroa

Revista de Cancioneros Impresos y Manuscritos, 2014
Os estudosos da lírica medieval galego-portuguesa están divididos á hora de considerar se o trobador Pedro García de Ambroa e o segrel Pedro de Ambroa son a mesma persoa ou non.
Joaquim Ventura Ruiz
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Il Sillabo della lingua cinese

, 2016
Il Sillabo della lingua cinese è un quadro di riferimento unitario per l’insegnamento della lingua cinese nelle scuole italiane.Il Sillabo della lingua cinese è stato realizzato sulla base di un percorso formativo quinquennale in cui siano previste 100
ROMAGNOLI, Chiara
core  

National and International Monitoring of Student Literacy and Numeracy Attainment: The Case for Rigorous Macro and Micro Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT In her 2024 paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data, Larsen compiled an impressive summary of major international (PISA, PIRLS and TIMSS) and national (NAPLAN) standardised assessments pertaining to literacy and numeracy.
Pamela C. Snow, Tanya A. Serry, Jennifer Buckingham, Lorraine S. Hammond, Stephen Dinham, Eamon Charles, Tessa A. Weadman, Nathanial R. Swain, Susan Hiland, Tessa Daffern   +9 more
wiley   +1 more source

Il fluire della lingua materna nell'esperienza religiosa

, 2006
Il testo articola l’idea che il linguaggio religioso è uno dei linguaggi simbolici, accanto a quello filosofico, letterario. Un linguaggio cioè che, nominando il mondo, apre alla possibilità di andare scoprendo cosa il mondo sia e come con la lingua ...
ZAMBONI, Chiara
core   +2 more sources

Il ruolo dei giudici francofoni nella giurisprudenza della Corte suprema del Canada [PDF]

IANUS Diritto e Finanza, 2018
Il saggio investiga sul ruolo dei tre giudici francofoni che siedono nella Corte suprema. A tal fine, è stata esaminata la giurisprudenza del collegio, in particolare, valutando le pronunce in cui i giudici suddetti siano stati congiuntamente latori di ...
Eleonora Ceccherini
doaj