A Pilot Study of ANXA2, MED12, CALM1 and MAPK1 Gene Variants in Primary Hyperparathyroidism

Subjects: “…Biological Sciences…”
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Chromosomal Microarray in Children Born Small for Gestational Age – Single Center Experience

Subjects: “…Biological Sciences…”
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Investigation of TLR4 Polymorphism in Children with Vesicoureteral Reflux and Renal Scarring

Subjects: “…Biological Sciences…”
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CREBBP is a Major Prognostic Biomarker for Relapse in Childhood B-cell Acute Lymphoblastic Leukemia: A National Study of Unselected Cohort

Subjects: “…Biological Sciences…”
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Association of CYP2C19*2 c.681G>A (rs4244285) Loss-of-function Allele with Cardiovascular Disease Risk in the Kosovo Population

Subjects: “…Biological Sciences…”
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Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns

Subjects: “…Biological Sciences…”
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Camptodactyly and Early-Onset Scoliosis in Snijders Blok–Campeau Syndrome

Subjects: “…Biological Sciences…”
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Novel MYH11 Splice Site Variant Causing Exon Skipping in a Family With Thoracic Aortic Aneurysms and Dissections

Subjects: “…Biological Sciences…”
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Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

Subjects: “…Biological Sciences…”
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A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome

Subjects: “…Biological Sciences…”
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Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment

Subjects: “…Biological Sciences…”
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Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report

Subjects: “…Biological Sciences…”
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First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum

Subjects: “…Biological Sciences…”
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The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13)

Subjects: “…Biological Sciences…”
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Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

Subjects: “…Biological Sciences…”
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Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum

Subjects: “…Biological Sciences…”
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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...

Subjects: “…Biological Sciences…”
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Identification of a Novel DNAAF3 Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)

Subjects: “…Biological Sciences…”
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Correction to “Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India”

Subjects: “…Biological Sciences…”
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Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature

Subjects: “…Biological Sciences…”
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