Results 151 to 160 of about 117,358 (311)

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Congenital anomaly of the lung

, 1947
U vezi s jednim našim kliničkim opažanjem želimo upozoriti na ovu rijetku, prirođenu anomaliju pluća - i radi njezinog kliničkog digniteta, a i radi važnosti za medicinu socijalnog osiguranja.The author describes a patient with congenital anomaly ...
Stanko Dujmušić, Dujmušić, Stanko
core  

'X-cross' left coronary artery congenital anomaly. [PDF]

Eur Heart J Case Rep, 2023
Ferraz Costa G, Costa M, Teixeira R.
europepmc   +1 more source

Congenital aphakia in Peters' anomaly syndrome. A case report

, 1997
The authors report a case of congenital bilateral corneal opacities in which one of the eyes was enucleated because of malignant glaucoma and corneal perforation.
M. Freschi, G. Trabucchi, R. Brancato, A. Piantanida, P. Nucci, F. Bandello   +5 more
core   +1 more source

The Congenital Anomaly of Fixing a Small Intestine Complicated by Sharp Small Intestine Impassibility

, 2015
congenital anomaly, internal hernias, ezenterikopariyetalny hernias, sharp tonkokishechny impassabilityАrticle contains the description of a clinical case: development of sharp tonkokishechny impassability against left-side mezenterikopariyetalny hernia ...
Zhotkovskaya, T. S, Makarchik, V. V., Medvedko, A. A., Rusak, I .V., Maslakova, N. D., Flyorov, A. O., Novitsky, A. A.   +6 more
core  

Otocephaly: A Case Report of a Rare Congenital Anomaly. [PDF]

Cureus, 2023
Ur Rahman H, Anees A, Ali MA, Ahmad S, Khan AB.   +4 more
europepmc   +1 more source

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

Septated gallbladder: a rare congenital anomaly and its clinical implications. [PDF]

J Surg Case Rep
Iyer S, Nguyen P, Wang J, Qiu S, Rastellini C, Cicalese L.   +5 more
europepmc   +1 more source

Aphallia: A Rare Congenital Anomaly in a Low-Resource Setting. [PDF]

Int Med Case Rep J, 2023
Mehretab AG, Berhe ND, Fekadu ET.
europepmc   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source