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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
Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
Published 2025-05-01Subjects: Get full text
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4
Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report
Published 2025-03-01Subjects: “…autosomal recessive…”
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01Subjects: “…Autosomal recessive…”
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7
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis
Published 2017-08-01Subjects: Get full text
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8
Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Published 2025-07-01Subjects: Get full text
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10
The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease
Published 2022-12-01Subjects: Get full text
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11
A clinical case of autosomal recessive agammaglobulinemia with B-cell deficiency
Published 2024-01-01Subjects: Get full text
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12
Misdiagnosed for 14 Years: Adenosine Deaminase 2 (ADA2) Deficiency in a Teen Mimicking Polyarteritis Nodosa
Published 2024-11-01Subjects: Get full text
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13
Correction: Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Published 2025-08-01Subjects: Get full text
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14
Inheritance Mode of a Red-Eye Mutation in <i>Macrolophus pygmaeus</i> (Hemiptera: Miridae)
Published 2025-07-01Subjects: Get full text
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15
Prostatic cyst in autosomal recessive polycystic kidney disease: A case presentation and literature review
Published 2024-11-01Subjects: Get full text
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16
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family
Published 2025-03-01Subjects: Get full text
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17
A Rare Vitreoretinal Degenerative Disorder: Goldmann–Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient
Published 2025-03-01Subjects: Get full text
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18
Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report
Published 2025-05-01Subjects: Get full text
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Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy
Published 2025-08-01Subjects: Get full text
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