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Results for Showing 31101 - 31150 results of 59442 Laminas_Feed_Writer 2 (https://getlaminas.org) https://search.frelip.org/Search/Results?sort=last_indexed+desc&limit=50&page=623&type=AllFields&lng=en 59442 31100 50 A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28713 https://search.frelip.org/Record/rss_article:28713 Online Article RSS Article 2026 0 Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28714 https://search.frelip.org/Record/rss_article:28714 Online Article RSS Article 2026 0 Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28715 https://search.frelip.org/Record/rss_article:28715 Online Article RSS Article 2026 0 First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28716 https://search.frelip.org/Record/rss_article:28716 Online Article RSS Article 2026 0 The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13) Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28717 https://search.frelip.org/Record/rss_article:28717 Online Article RSS Article 2026 0 Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28718 https://search.frelip.org/Record/rss_article:28718 Online Article RSS Article 2026 0 Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28719 https://search.frelip.org/Record/rss_article:28719 Online Article RSS Article 2026 0 Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the APC Promotor 1B Variant c.-191T > C Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28720 https://search.frelip.org/Record/rss_article:28720 Online Article RSS Article 2026 0 Identification of a Novel DNAAF3 Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD) Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28721 https://search.frelip.org/Record/rss_article:28721 Online Article RSS Article 2026 0 Correction to “Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India” Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28722 https://search.frelip.org/Record/rss_article:28722 Online Article RSS Article 2025 0 Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28723 https://search.frelip.org/Record/rss_article:28723 Online Article RSS Article 2025 0 MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2 Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28724 https://search.frelip.org/Record/rss_article:28724 Online Article RSS Article 2025 0 A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker–Gordon Syndrome Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28725 https://search.frelip.org/Record/rss_article:28725 Online Article RSS Article 2025 0 Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers–Danlos Syndrome Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28726 https://search.frelip.org/Record/rss_article:28726 Online Article RSS Article 2025 0 Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28727 https://search.frelip.org/Record/rss_article:28727 Online Article RSS Article 2025 0 Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28728 https://search.frelip.org/Record/rss_article:28728 Online Article RSS Article 2025 0 Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28729 https://search.frelip.org/Record/rss_article:28729 Online Article RSS Article 2025 0 Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28730 https://search.frelip.org/Record/rss_article:28730 Online Article RSS Article 2025 0 Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28731 https://search.frelip.org/Record/rss_article:28731 Online Article RSS Article 2025 0 RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28732 https://search.frelip.org/Record/rss_article:28732 Online Article RSS Article 2025 0 Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28733 https://search.frelip.org/Record/rss_article:28733 Online Article RSS Article 2025 0 A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28734 https://search.frelip.org/Record/rss_article:28734 Online Article RSS Article 2025 0 Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28735 https://search.frelip.org/Record/rss_article:28735 Online Article RSS Article 2025 0 Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional Collapse Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28736 https://search.frelip.org/Record/rss_article:28736 Online Article RSS Article 2025 0 An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28737 https://search.frelip.org/Record/rss_article:28737 Online Article RSS Article 2025 0 A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28738 https://search.frelip.org/Record/rss_article:28738 Online Article RSS Article 2025 0 Genome survey and chromosome number determination of Polygala fallax (Polygalaceae), an endemic medicinal plant from southern China Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28739 https://search.frelip.org/Record/rss_article:28739 Online Article RSS Article 2026 0 Additional data of cryptic species of the blind mole rat (Nannospalax, Rodentia) (2n = 52, NF = 84) from the Eastern Anatolia Region of Türkiye Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28740 https://search.frelip.org/Record/rss_article:28740 Online Article RSS Article 2026 0 Cytogenetic analysis of some species of Cyphomyrmex Mayr, 1862 and Apterostigma Mayr, 1865 (Formicidae, Myrmicinae) from the Guiana Shield Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28741 https://search.frelip.org/Record/rss_article:28741 Online Article RSS Article 2026 0 Chromosomes of Aganaspis daci (Weld, 1951) and a review of known karyotypes of the family Figitidae (Hymenoptera) Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28742 https://search.frelip.org/Record/rss_article:28742 Online Article RSS Article 2026 0 The forbidden doubling: exploring rare spermatocyte polyploidy in mammals Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28743 https://search.frelip.org/Record/rss_article:28743 Online Article RSS Article 2026 0 On the anniversary of Professor, Dr. Sci. Valentina G. Kuznetsova, Editor-in-Chief of the journal “Comparative Cytogenetics” Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28744 https://search.frelip.org/Record/rss_article:28744 Online Article RSS Article 2026 0 Seven new karyotypes for subfamily Cercosaurinae (Squamata, Gymnophthalmidae) with a synthesis of chromosomal data Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28745 https://search.frelip.org/Record/rss_article:28745 Online Article RSS Article 2026 0 Phylogenetic conservation and diversification of 18S rDNA loci in leaf-cutting ants (Hymenoptera, Formicidae): insights from molecular validation and chromosomal mapping using FISH Thu, 01 Jan 2026 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28746 https://search.frelip.org/Record/rss_article:28746 Online Article RSS Article 2026 0 Chironomus sp. J – an elusive species from the Chironomus plumosus (Linnaeus, 1758) sibling-species group (Diptera, Chironomidae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28747 https://search.frelip.org/Record/rss_article:28747 Online Article RSS Article 2025 0 Comparative cytogenetics among populations of two Bothriurus species (Scorpiones, Bothriuridae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28748 https://search.frelip.org/Record/rss_article:28748 Online Article RSS Article 2025 0 Comparative cytogenetics of the Physalaemus gracilis group (Anura, Leptodactylidae) with characterization of the karyotype of Physalaemus evangelistai Bokermann, 1967 Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28749 https://search.frelip.org/Record/rss_article:28749 Online Article RSS Article 2025 0 Triploidy in parthenogenetic Chinese Helophorus aquila Angus et al., 2014 Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28750 https://search.frelip.org/Record/rss_article:28750 Online Article RSS Article 2025 0 Karyotype of Hynobius fucus Lai et Lue, 2008, a salamander endemic to Taiwan with comments in memory of June-Shian Lai, a pioneer in studies of mountainous salamanders (Urodela, Hynobiidae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28751 https://search.frelip.org/Record/rss_article:28751 Online Article RSS Article 2025 0 Molecular cytogenetic study on the scleractinian coral Micromussa amakusensis (Veron, 1990) (Hexacorallia, Anthozoa, Cnidaria): isolation of five fluorescence in situ hybridization markers Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28752 https://search.frelip.org/Record/rss_article:28752 Online Article RSS Article 2025 0 Corrigenda: Bhowmick BK, Jha S (2022) A critical review on cytogenetics of Cucurbitaceae with updates on Indian taxa. Comparative Cytogenetics 16(2): 93–126. https://doi.org/10.3897/compcytogen.v16.i2.79033 Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28753 https://search.frelip.org/Record/rss_article:28753 Online Article RSS Article 2025 0 Triploid female Helophorus brevipalpis Bedel, 1881 in Provence, France, with additional data on C-banding in both triploid and diploid material, and discussion of chromosomal variation in H. brevipalpis Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28754 https://search.frelip.org/Record/rss_article:28754 Online Article RSS Article 2025 0 Non-canonical telomeric motif TTAGGGGTGG in the true bug species Geocoris dispar Waga, 1839 (Heteroptera, Geocoridae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28755 https://search.frelip.org/Record/rss_article:28755 Online Article RSS Article 2025 0 First karyotype description of Epiplatys spilargyreius (Duméril, 1861) with comments on chromosome evolution in the genus Epiplatys Gill, 1862 (Nothobranchiidae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28756 https://search.frelip.org/Record/rss_article:28756 Online Article RSS Article 2025 0 Dynamic meiotic behavior and evolutionary insights of supernumerary B chromosomes in the hangingfly Bittacus cirratus (Mecoptera, Bittacidae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28757 https://search.frelip.org/Record/rss_article:28757 Online Article RSS Article 2025 0 Chromosomes of four fishfly species (Megaloptera, Corydalidae, Chauliodinae) from North America Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28758 https://search.frelip.org/Record/rss_article:28758 Online Article RSS Article 2025 0 Chromosomes of four species of dobsonflies, in the genus Protohermes (Megaloptera, Corydalidae, Corydalinae) from East Asia Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28759 https://search.frelip.org/Record/rss_article:28759 Online Article RSS Article 2025 0 Chromosomal polymorphism in natural populations of Chironomus borokensis Kerkis, Filippova, Shobanov, Gunderina et Kiknadze, 1988 (Diptera, Chironomidae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28760 https://search.frelip.org/Record/rss_article:28760 Online Article RSS Article 2025 0 Microsatellite repeat mapping shows inner chromosomal diversification in highly conserved karyotypes of Asian cyprinid fishes Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28761 https://search.frelip.org/Record/rss_article:28761 Online Article RSS Article 2025 0 High variability in chromosome number from a clade within the gourami family (Teleostei, Osphronemidae) Wed, 01 Jan 2025 05:00:44 -0500 https://search.frelip.org/Record/rss_article:28762 https://search.frelip.org/Record/rss_article:28762 Online Article RSS Article 2025 0