Results 161 to 170 of about 16,675 (221)

Unveiling Ca9N4Te3: A New Motif in Alkaline‐Earth Metal Chalcogenide Nitrides: A Combined Experimental and Computational Study

Zeitschrift für anorganische und allgemeine Chemie, Volume 652, Issue 13, 1 September 2026.
The unique double monocapped trigonal cupola coordination polyhedra of Te(2) atoms inside the crystal structure of Ca9N4Te3. Green, moisture‐sensitive Ca9N4Te3 was obtained from Ca/Na flux at 1173 K as a by‐product of reddish‐brown Ca6N2Te3 and crystallizes in the trigonal space group R3¯$\overline{3}$ (No. 148, Z = 3).
Guowei Sun, Rainer Niewa
wiley   +1 more source

Genotype-phenotype correlations in retinitis pigmentosa: structural and vascular insights using OCT and OCTA. [PDF]

Int J Retina Vitreous
Balikoglu-Yilmaz M, Kocar A, Subasioglu A, Gasimli R, Elmali F.   +4 more
europepmc   +1 more source

Identification of a novel pathogenic variant in MYLK in an Iranian family with non-syndromic familial aortic aneurysm and dissection by whole-exome sequencing and literature review. [PDF]

BMC Med Genomics
Jafari H, Salehi M, Behjati M, Jazi MH, Garshasbi M.   +4 more
europepmc   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Novel <i>MORC2</i> variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights. [PDF]

Front Med (Lausanne)
Tao R, Zhang T, Luo F, Liu Y, Fan L, Wu X, Liu Y.   +6 more
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Distinct Rhythmic Competencies Identified via Internet-Based Assessment. [PDF]

Ann N Y Acad Sci
Fiveash A, Foster NEV, Gordon RL, Dalla Bella S, Tillmann B.   +4 more
europepmc   +1 more source

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia. [PDF]

Pediatr Pulmonol
Hakçıl Öz T, Şişmanlar Eyüboğlu T, Aslan AT, Kula N, Kayhan G.   +4 more
europepmc   +1 more source

Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities

Prenatal Diagnosis, Volume 46, Issue 10, Page 1663-1666, September 2026.
Kristina Nimchenko, Bettina Bessieres, Gihad E. Chalouhi, Antonia Pop, Vanina Castaigne, Bertrand Stos, Marie‐Paule Beaujard, Diane Roy, Daniela Laux, Tania Attie‐Bitach   +9 more
wiley   +1 more source

A case of maturity‐onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant

Journal of Diabetes Investigation, Volume 17, Issue 9, Page 1457-1466, September 2026.
ABSTRACT Aims/Introduction Maturity‐onset diabetes of the young (MODY) accounts for at least 1%–5% of diabetes cases and is usually caused by single gene variants. Accurate diagnosis of MODY is important for effective management, especially in young individuals who are lean and lack islet autoantibodies.
Tomofumi Takayoshi, Yushi Hirota, Kenji Sugawara, Aki Sugano, Mika Ohta, Takehito Takeuchi, Akane Yamamoto, Wataru Satake, Yutaka Takaoka, Wataru Ogawa   +9 more
wiley   +1 more source