Results 191 to 200 of about 360,737 (315)

Prenatal genetic diagnostics and postnatal outcomes of fetal auricular dysplasia. [PDF]

Arch Gynecol Obstet
Zhu Y, Han X, Ouyang X, Chu T, Li N, Yang J, Cheng X, Liu L.   +7 more
europepmc   +1 more source

Occipital irregular delta activity in focal epilepsy

Epileptic Disorders, EarlyView.
Abstract Objective Nonspecific occipital irregular delta activity (OID) is a common finding in focal epilepsy (FE). However, the significance of OID and its relationship to the underlying etiology of FE remain largely unstudied. This study aimed to investigate the relationship between OID and the etiology of FE, as well as the relationship between OID ...
Mónika Bessenyei, Miklós Emri, Johanna Dömötör, Béla Clemens   +3 more
wiley   +1 more source

A rare cause of neonatal respiratory distress: Jeune syndrome. [PDF]

Radiol Case Rep
El Aouadi S, Bahha S, Taibi O, Bouanane R, Allali N, Chat L, El Haddad S.   +6 more
europepmc   +1 more source

Expanding the phenome and variome of skeletal dysplasia

Genetics in Medicine, 2018
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, N. Patel, F. Alzahrani, H. Shamseldin, S. Anazi, Nour Ewida, H. Alsaif, Jawahir Y. Mohamed, A. Alazami, N. Ibrahim, F. Abdulwahab, M. Hashem, M. Abouelhoda, D. Monies, N. Tassan, M. Alshammari, A. Alsagheir, M. Z. Seidahmed, Samira Sogati, M. Aglan, M. Hamad, M. Salih, A. Hamed, Nadia Alhashmi, A. Nabil, Fatima Alfadli, G. Abdel-Salam, Hisham S. Alkuraya, W. Peitee, W. Keng, Abdullah A. Qasem, Aziza Mushiba, M. Zaki, Mahmoud R. Fassad, M. Alfadhel, S. Alexander, Y. Sabr, S. Temtamy, Alka V. Ekbote, S. Ismail, G. Hosny, G. Otaify, K. Amr, S. A. Tala, Arif O. Khan, T. Rizk, A. Alaqeel, A. Alsiddiky, Ankur Singh, S. Kapoor, Amal M Alhashem, E. Faqeih, R. Shaheen, F. Alkuraya   +55 more
semanticscholar   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

ML-driven quantum dots: novel HOXB13 imaging for porokeratosis with underlying squamous dysplasia associations. [PDF]

Ann Med Surg (Lond)
Abbas Q, Johar MA, Umer M, Fatima M.
europepmc   +1 more source

Thanatophoric dysplasia.

JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR), 1997
Vanhoenacker, F.M., de Schepper, A.M., de Smedt, M., Willems, P.   +3 more
openaire   +3 more sources

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Favourable 16-year outcome of an acetabular reinforcement ring with suboptimal host-bone coverage: the role of biological and mechanical stabilisation. [PDF]

J Surg Case Rep
Castro Mendes J, Moreira JL, Seixas J, Corte-Real C, Isidoro D, Farinha P, Rodrigues J, Judas F.   +7 more
europepmc   +1 more source