Results 191 to 200 of about 49,640 (282)

Micromorphological Characterization of Astragalus chamaephaca (Fabaceae) With Observations on Pollen Viability

Feddes Repertorium, Volume 137, Issue 2, June 2026.
ABSTRACT Astragalus chamaephaca Freyn is a geographically restricted endemic species of Central Anatolia assigned to sect. Macrosemium Bunge. Detailed micromorphological data for this taxon have remained limited. This study provides a comprehensive account of pollen morphology, pollen viability, seed surface ornamentation, and indumentum characters ...
Fatma Taeb Dişli
wiley   +1 more source

WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review. [PDF]

Curr Issues Mol Biol
Sapuppo A, Rizzo R, Fusto G, Rocca R, Sortino V, Pappalardo XG, Ruggieri M, Falsaperla R.   +7 more
europepmc   +1 more source

A novel homozygous <i>ARFGEF2</i> splice-site variant causing periventricular nodular heterotopia with microcephaly. [PDF]

Front Pediatr
Liu X, Pang L, Li J, Zhang J, Wu W, Li X, Gong Y, Dou Y, Chen F, Sun S.   +9 more
europepmc   +1 more source

Long-Term Follow-Up of a Patient with a Novel Homozygous <i>ASTN1</i> Variant: A Case Report. [PDF]

Neurol Int
Kasap B, Uludağ Alkaya D, Güneş N, Türk S, Korkmaz B, Tüysüz B.   +5 more
europepmc   +1 more source

Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

Need for developing case definitions and guidelines for data collection, analysis, and presentation for congenital microcephaly as an adverse event following maternal immunisation Congenital microcephaly, also referred to as primary microcephaly due to ...
Kachikis, Alisa, Muñoz, Flor M., Klein, Nicola P., Oleske, James M., Tse Kawai, Alison Tse, Tagbo, Beckie N., Shrestha, Anju, Marshall, Helen, DeSilva, Malini, Nesin, Mirjana, Sell, Erick, Spiegel, Hans, Bardají, Azucena, Brighton Collaboration Congenital Microcephaly Working Group, Heath, Paul T., Eckert, Linda O., Jehan, Fyezah, Kochhar, Sonali, Cutland, Clare L.   +18 more
core  

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

Novel nonsense variant of KIF11 in a patient with MCLMR. [PDF]

Hum Genome Var
Ozaki Y, Yokoi K, Nakamura Y, Fujimoto M, Ishioka R, Kasukabe K, Kato T, Saitoh S.   +7 more
europepmc   +1 more source

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu, Guoqiang Li, Yimin He, Yiyao Chen, Lu‐lu Li, Niu Li, Shuyuan Li, Jian Wang   +7 more
wiley   +1 more source

ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature Review. [PDF]

NeuroSci
Andreoli L, Caputo D, Doniselli FM, Messina G, Granocchio E, Castellotti B, Freri E.   +6 more
europepmc   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source