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2521
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
Published 2017-01-01“…Case Reports in Genetics…”
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2522
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function
Published 2016-01-01“…Case Reports in Genetics…”
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2523
Assessment of the Diversity of Tomato (Solanum Lycopersicum L.) Accessions in the Nigeria National Gene Bank Using Simple Sequence Repeat (SSR) Markers
Published 2024-09-01“…Journal of Genetic Resources…”
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2524
Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome
Published 2012-01-01“…Case Reports in Genetics…”
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2525
Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion
Published 2021-01-01“…Case Reports in Genetics…”
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2526
Investigation of Abundance and Diversity of Cantharidin Compounds in the Hycleus colligatus, Mylabris schrenki, Mylabris cincta, and Hycleus schah Species from Kerman Province, Ira...
Published 2024-09-01“…Journal of Genetic Resources…”
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2527
Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report
Published 2012-01-01“…Case Reports in Genetics…”
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2528
Transcriptomic Analysis of Pathogenicity Genes in Sclerotinia sclerotiorum Affecting Brassica napus
Published 2024-09-01“…Journal of Genetic Resources…”
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2529
A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
Published 2011-01-01“…Case Reports in Genetics…”
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2530
A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
Published 2014-01-01“…Case Reports in Genetics…”
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2531
Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran
Published 2023-01-01“…Case Reports in Genetics…”
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2532
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
Published 2012-01-01“…Case Reports in Genetics…”
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2533
Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature
Published 2014-01-01“…Case Reports in Genetics…”
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2534
Re-evaluating evidence for giant genomes in amoebae
Published 2024-12-01“…Genetics and Molecular Biology…”
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2535
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
Published 2024-01-01“…Case Reports in Genetics…”
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2536
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm
Published 2014-01-01“…Case Reports in Genetics…”
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2537
A Newborn with Panhypopituitarism and Seizures
Published 2017-01-01“…Case Reports in Genetics…”
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2538
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Published 2022-01-01“…Case Reports in Genetics…”
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2539
Screening of a Soil Tyrosianse Producing Bacterial Strain HM24 and Comparison of its Tyrosinase Activity in Different Mediums Containing Natural Sources of L-tyrosine
Published 2024-09-01“…Journal of Genetic Resources…”
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2540
Impact of Long-term Polyvinylpyrrolidone Exposure on Gene Expression, Chromatin Structure, and Malondialdehyde Levels in Human Sperm
Published 2024-09-01“…Journal of Genetic Resources…”
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Article