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1
Mucopolysaccharidosis: A rare case from ophthalmology perspective
Published 2025-01-01Subjects: “…autosomal recessive…”
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2
Sjogren–Larsson Syndrome: A Familial Disease Afflicting Three Siblings Born of a Nonconsanguinous Marriage
Published 2024-12-01Subjects: “…autosomal recessive…”
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3
Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
Published 2025-02-01Subjects: Get full text
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4
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01Subjects: “…Autosomal recessive…”
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5
Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
Published 2025-02-01Subjects: Get full text
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6
Intermediate Osteopetrosis with Hooked-Shaped Phalanges
Published 2024-12-01Subjects: Get full text
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7
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
Published 2025-01-01Subjects: Get full text
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8
Modelling seasonal HFMD with the recessive infection in Shandong, China
Published 2013-05-01Subjects: “…recessive…”
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9
Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy
Published 2025-01-01Subjects: “…autosomal recessive bestrophinopathy…”
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10
Editorial: Consanguinity and rare genetic neurological diseases
Published 2025-02-01Subjects: Get full text
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11
Recessive transition of rural residential land use from the perspective of value co-creation: A case study of Yiwu City, Zhejiang
Published 2025-01-01Subjects: “…value co-creation|recessive transition of land use|rural residential land redevelopment|yiwu…”
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease
Published 2025-01-01Subjects: “…autosomal recessive polycystic kidney disease…”
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14
Effects of selection and mutation on epidemiology of X-linked genetic diseases
Published 2017-05-01Subjects: Get full text
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15
Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma
Published 2025-01-01Subjects: “…autosomal recessive congenital ichthyosis…”
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16
Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review
Published 2025-01-01Subjects: Get full text
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Unusual congenital polydactyly in mini-pigs from the breeding group of the Institute of Cytology and Genetics (Novosibirsk, Russia)
Published 2021-10-01Subjects: Get full text
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20
Mechanisms and regulatory pathways of recessive land use transition
Published 2025-01-01Subjects: “…land use transition|recessive land use transition|land use morphology|land use regulation|land use conflict…”
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