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6401
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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6402
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
Published 2024-01-01“…Case Reports in Genetics…”
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6403
Re-evaluating evidence for giant genomes in amoebae
Published 2024-12-01“…Genetics and Molecular Biology…”
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6404
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
Published 2024-01-01“…Case Reports in Genetics…”
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6405
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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6406
Ancestral genomics: African American health in the age of precision medicine<subtitle>by Constance B. Hilliard, Cambridge, MA, Harvard University Press, 2024, pp. 208, £27.95/ €29....
Published 2025-12-01“…New Genetics and Society…”
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6407
A Newborn with Panhypopituitarism and Seizures
Published 2017-01-01“…Case Reports in Genetics…”
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6408
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Published 2022-01-01“…Case Reports in Genetics…”
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6409
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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6410
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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6411
Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
Published 2017-01-01“…Case Reports in Genetics…”
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6412
Gene Expression Analysis of Deduced Protein Sequence from the FLOWERING LOCUS C (FLC) Homolog during Vegetative and Reproductive Phases in Lepidium sativum L.
Published 2024-09-01“…Journal of Genetic Resources…”
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6413
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
Published 2024-01-01“…Case Reports in Genetics…”
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6414
Sequence-based GWAS in 180,000 German Holstein cattle reveals new candidate variants for milk production traits
Published 2025-02-01“…Genetics Selection Evolution…”
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6415
Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma
Published 2021-01-01“…Case Reports in Genetics…”
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6416
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
Published 2018-01-01“…Case Reports in Genetics…”
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6417
Karyotype Analysis in Five Species of Carthamus L. (Asteraceae) from Iran
Published 2024-02-01“…Journal of Genetic Resources…”
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6418
A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case
Published 2024-01-01“…Case Reports in Genetics…”
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6419
Methylmalonic Acidemia with Novel MUT Gene Mutations
Published 2017-01-01“…Case Reports in Genetics…”
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6420
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20
Published 2020-01-01“…Case Reports in Genetics…”
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