Results 201 to 210 of about 65,383 (280)

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe. [PDF]

Brain
Fernández-Eulate G, Gitiaux C, Thiele S, Jungbluth H, Potulska-Chromik A, Marini-Bettolo C, Davion JB, Morís G, Gallardo E, Olivé M, de Fuenmayor-Fernández de la Hoz CP, Audic F, Isapof A, Walter MC, Angelini C, Bertini E, Schara-Schmidt U, Claeys KG, Dohrn MF, Dembele M, Fer F, Brochier G, Evangelista T, Kostera-Pruszczyk A, Attarian S, Straub V, Domínguez-González C, Vissing J, Richard P, Metay C, Khraiche D, Wahbi K, Stojkovic T.   +32 more
europepmc   +1 more source

Afforestation of tropical savannas has mixed consequences for bird communities

Conservation Science and Practice, EarlyView.
Moving beyond the prevailing binary perception of savanna afforestation being either ‘good’ or ‘bad’ for native biodiversity, our data suggests that plantations on the rainfall extremes should be viewed as important supplementary habitats for biodiversity.
Siddhant Mhetre, Prabhav Benara, Yash Gaikwad, Aryan S. Deore, Avishkar Munje, Ashish N. Nerlekar   +5 more
wiley   +1 more source

Co‐inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction

British Journal of Haematology, EarlyView.
Perla Bandini, Nina Borràs, Laura Martin‐Fernandez, Nuria Fernández‐Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales   +12 more
wiley   +1 more source

Refining a molecular tool kit to capture tropicalization in Mediterranean marine protected areas

Conservation Science and Practice, EarlyView.
We assess complementarity and trade‐offs between visual census and eDNA metabarcoding for monitoring fish community changes in MPAs. Abstract Tropicalization, the process by which tropical species expand their ranges poleward due to global ocean warming, is a prominent threat to Mediterranean marine ecosystems, challenging their effective management ...
Erika Frances Neave, Charalampos Dimitriadis, Peter Shum, Ana Riesgo, Stefano Mariani   +4 more
wiley   +1 more source

Update in NMD Announcement

Neuromuscular Disorders, 2017
openaire   +2 more sources

Data driven pedagogy in physical education a new paradigm in teaching effectiveness. [PDF]

Sci Rep
Wu Y.
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. [PDF]

Nat Cardiovasc Res
Murphy MR, Ganapathi M, Rotlevi ER, Lee TM, Fisher JM, Patel MV, Jayakar P, Buchanan A, Rippert AL, Ahrens-Nicklas RC, Nair D, Nayak SS, Anand A, Shukla A, Soni RK, Yin Y, Yang F, Garcia EJ, Reilly MP, Chung WK, Wu X.   +20 more
europepmc   +1 more source