Results 221 to 230 of about 201,729 (304)

X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Laxman Chapagain, Anumesh Dahal, Pooja Gupta, Prajwal Pudasaini, Upama Paudel   +4 more
wiley   +1 more source

Morphological and Radiologic Features of the Skull of a Juvenile Green Turtle (<i>Chelonia mydas</i>, Linnaeus, 1758) from Saint Kitts and Nevis, West Indies. [PDF]

Animals (Basel)
Martonos CO, Dezdrobitu CC, Rawlins G, Lațiu C, Gudea AI.   +4 more
europepmc   +1 more source

Fault‐Mediated Groundwater‐Surface Water Mixing Amplifies Hydrochemical/Hydrological Dynamics in a Semi‐Arid Volcanic Lake Basin

Hydrological Processes, Volume 40, Issue 5, May 2026.
Isotopes data help to understand the GW‐SW connectivity, the recharge elevations, and evaporation in a volcanic lake basin. ABSTRACT Understanding groundwater (GW) to surface water (SW) connectivity (i.e., the exchange of water and solutes between aquifers and surface bodies) is increasingly important under changing climate conditions, where ...
L. Ramírez‐González, S. Olea‐Olea, R. E. Villanueva‐Estrada, M. A. Mejía‐González, L. González‐Hita, E. Morales‐Casique, O. Zamora‐Martínez, M. G. Gómez‐Vasconcelos, Denis‐Ramón Avellan, N. Ramírez‐Serrato   +9 more
wiley   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Split Facies with Destructive and Leonine Appearance: An Atypical Presentation of Angiosarcoma. [PDF]

Indian Dermatol Online J
Anand A, Mehta N, Singh S, Sinha P.
europepmc   +1 more source

Reconstructing the Holocene explosive eruptive history of the Erciyes volcano (Turkey) using proximal and distal tephra records

Journal of Quaternary Science, Volume 41, Issue 4, Page 645-659, May 2026.
ABSTRACT Mount Erciyes, the largest active volcano of Central Anatolia (Turkey), erupted explosively during the Holocene, producing the Karagüllü, Perikartin and Dikkartin tuff rings. Even though major cities like Kayseri and its ~1 million residents sit directly on these pyroclastic deposits, the timing and magnitude of the explosive eruptions have ...
Ivan Sunyé‐Puchol, Rengin Özsoy‐Ünal, Xavier Bolós, Victoria C. Smith, Efe Akkas, Lorenzo Tavazzani, Jan Aymerich, Manuela Nazzari, Pierre Lacan, Victoria Cullen, Olivier Bachmann, Piergiorgio Scarlato, Silvio Mollo   +12 more
wiley   +1 more source

The river Dniester valley: a long record of late-Cenozoic fluvial evolution within the Eastern Carpathian foreland and East European Platform margin. [PDF]

R Soc Open Sci
Matoshko AV, Gibbard P.
europepmc   +1 more source

Facies

, 2020
openaire   +1 more source

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Exome Sequencing identified SCN1B splice site variant in two unrelated consanguineous Pakistani families. (A) Pedigree chart of a family. Circles represent females, squares represent males. Filled symbols represent affected status. Genotype is mentioned below the symbols.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
wiley   +1 more source

Multi-scale reservoir characterization of pre-rift reservoirs in the October field, Gulf of Suez using integrated seismic, well logs, and core data. [PDF]

Sci Rep
Ghaly M, Othman AAA, Elkhawaga M, Mostafa T.   +3 more
europepmc   +1 more source