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

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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...

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Identification of a Novel DNAAF3 Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)

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

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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

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MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2

Subjects: “…Biological Sciences…”
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A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker–Gordon Syndrome

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Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers–Danlos Syndrome

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Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

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Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report

Subjects: “…Biological Sciences…”
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Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening

Subjects: “…Biological Sciences…”
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Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

Subjects: “…Biological Sciences…”
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Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome

Subjects: “…Biological Sciences…”
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RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

Subjects: “…Biological Sciences…”
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