Results 211 to 220 of about 237,110 (353)

Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis. [PDF]

J Diabetes Res
Ibrahim TAM, Ali RS, Abdullah MA, Ibrahim ME.   +3 more
europepmc   +1 more source

A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome [PDF]

, 2016
et al,, Grange, Dorothy K
core   +1 more source

Whole Exome Sequencing [PDF]

, 2020
openaire   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Whole-exome sequencing identifies a CD38 variant in a Chinese family with hodgkin's lymphoma. [PDF]

Ann Hematol
Chen X, Xie L, Wu W, Jiang M, Cui Y, Zou L.   +5 more
europepmc   +1 more source

Proteus syndrome exomes [PDF]

Nature Genetics, 2011
openaire   +1 more source

Clinical Images: Biopsy‐proven hydroxychloroquine‐induced cardiomyopathy in an adolescent with systemic lupus erythematosus

Arthritis &Rheumatology, EarlyView.
Greta Mastrangelo, Deborah M. Levy, Anita Nagy, Aamir Jeewa   +3 more
wiley   +1 more source

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain

Epilepsia, EarlyView.
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Franziska Fazekas, Amit Haboosheh, Bernhard Hennebichler, Thomas Roetzer‐Pejrimovsky, Julia Binder, Theresa Reischer, Mateja Pfeifer, Anke Scharrer, Christof Worda, Tina Linder, Alex Farr, Romana Höftberger, Ellen Gelpi, Christian Mitter, Gregor Kasprian, Christine Haberler, Nicole Amberg   +16 more
wiley   +1 more source

Genetic analysis of Han-Chinese patients with isolated congenital ptosis. [PDF]

Int J Ophthalmol
Zhang QL, Yuan LM, Deng XY, Zheng W, Yi JH, Xu HB, Deng H.   +6 more
europepmc   +1 more source

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes [PDF]

Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Miguel Verbitsky, Shirlee Shril, Iris Lekkerkerker, Sandy Yang, Atlas Khan, David Fasel, Janewit Wongboonsin, Jeremiah Martino, Juntao Ke, Naama Elefant, Nikita Tomar, Ofek Harnof, Sergey Kisselev, Shiraz Bheda, Sivan Reytan-Miron, Tze Yin Lim, Anna Jamry‐Dziurla, Francesca Lugani, Jun Y. Zhang, Maddalena Marasà, Victoria Kolupaeva, Emily Groopman, Gina Jin, Iman Ghavami, Kelsey O. Stevens, Arielle C. Coughlin, Byum Hee Kil, Debanjana Chatterjee, Drew Bradbury, Jason Zheng, Karla Mehl, Maria Morban, Rachel Reingold, Stacy Piva, Xueru Mu, Adele Mitrotti, Agnieszka Szmigielska, Aleksandra Gliwińska, Andrea Ranghino, Andrew S. Bomback, Andrzej Badeński, Anna Latos‐Bieleńska, Valentina Capone, Anna Materna‐Kiryluk, Antonio Amoroso, Claudia Izzi, Claudio La Scola, David J. Cohen, Domenico Santoro, Dorota Drożdż, Enrico Fiaccadori, Fangming Lin, Francesco Scolari, Francesco Tondolo, Gaetano La Manna, Gerald B. Appel, Gian Marco Ghiggeri, Gianluigi Zaza, Giovanni Montini, Giuseppe Masnata, Grażyna Krzemien, Isabella Pisani, Jai Radhakrishnan, Katarzyna Zachwieja, Loreto Gesualdo, Luigi Biancone, Davide Meneghesso, Małgorzata Mizerska-Wasiak, Marcin Tkaczyk, Marcin Zaniew, Maria Katarzyna Borszewska-Kornacka, Tomasz Szczepański, Marijan Saraga, Maya K. Rao, Monica Bodria, Monika Miklaszewska, Natalie Uy, Olga Baraldi, Omar Bjanid, Pasquale Esposito, Pasquale Zamboli, Pierluigi Marzuillo, Pietro A. Canetta, Przemysław Sikora, Rik Westland, Russell J. Crew, Shumyle Alam, Stefano Guarino, Susanna Negrisolo, Thomas Hays, Shrikant Mane, Valeria Grandinetti, Velibor Tasić, Vladimir J. Lozanovski, Yaşar Çalışkan   +99 more
openalex   +1 more source