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2541
Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
Published 2017-01-01“…Case Reports in Genetics…”
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2542
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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2543
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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2544
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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2545
Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma
Published 2021-01-01“…Case Reports in Genetics…”
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2546
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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2547
Karyotype Analysis in Five Species of Carthamus L. (Asteraceae) from Iran
Published 2024-02-01“…Journal of Genetic Resources…”
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2548
Methylmalonic Acidemia with Novel MUT Gene Mutations
Published 2017-01-01“…Case Reports in Genetics…”
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2549
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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2550
Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India
Published 2013-01-01“…Case Reports in Genetics…”
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2551
Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm
Published 2013-01-01“…Case Reports in Genetics…”
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2552
Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes
Published 2014-01-01“…Case Reports in Genetics…”
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2553
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
Published 2018-01-01“…Case Reports in Genetics…”
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2554
11p15.4 Microdeletion Associates with Hemihypertrophy
Published 2018-01-01“…Case Reports in Genetics…”
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2555
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening
Published 2023-01-01“…Case Reports in Genetics…”
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2556
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
Published 2018-01-01“…Case Reports in Genetics…”
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2557
Behçet Disease-Like Symptoms with a Novel COPA Mutation
Published 2020-01-01“…Case Reports in Genetics…”
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2558
Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia
Published 2014-01-01“…Case Reports in Genetics…”
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2559
Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene
Published 2014-01-01“…Case Reports in Genetics…”
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2560
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
Published 2017-01-01“…Case Reports in Genetics…”
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