[Focal dermal hypoplasia. Goltz's syndrome]

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Ophthalmic genetics·2002

Visual impairment in adult people with intellectual disability: literature review.

Journal of intellectual disability research : JIDR·2001

Visual impairment in adult people with moderate, severe, and profound intellectual disability.

Acta ophthalmologica Scandinavica·2001

Zidovudine monotherapy versus zidovudine plus zalcitabine combination therapy in HIV-positive persons with CD4 cell counts 300-500 cells/mm3: a double-blind controlled trial. The M50003 Study Group Coordinating and Writing Committee.

Antiviral therapy·2001

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

Ophthalmic genetics·2000

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

Human molecular genetics·1999

[Endovascular treatment of iliofemoral venous thrombosis].

Ugeskrift for laeger·2026

[Lateral epicondylitis].

Ugeskrift for laeger·2026

[Infiltrating basal cell carcinoma with perineural growth in a 15-year-old].

Ugeskrift for laeger·2026

[Group A streptococcal toxic shock syndrome with influenza A and parapneumonic effusion].

Ugeskrift for laeger·2026

[The significance of frailty in the assessment of polypharmacy and deprescribing].

Ugeskrift for laeger·2026

[Nutrition in the prevention and treatment of frailty in older adults].

Ugeskrift for laeger·2026

Neuropsychological and Educational Outcomes in Shwachman-Diamond Syndrome-A Report From the North American Shwachman-Diamond Syndrome Registry.

Pediatric blood & cancer·2026

Sex-dependent prediction of autism.

Frontiers in genetics·2026

DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure.

Genetics in medicine open·2026

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia·2026

Gametocyte-Specific Factor 1 Is Essential for Male Fertility and Transposon Homeostasis in Plutella xylostella.

Insects·2026

Peripheral Hematological and Immune-Endocrine Markers in Children with Specific Learning Disorder: An Exploratory Retrospective Case-Control Study.

Brain sciences·2026

Related Experiment Videos

[Focal dermal hypoplasia. Goltz's syndrome]

Related Concept Videos

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Visual impairment in adult people with intellectual disability: literature review.

Visual impairment in adult people with moderate, severe, and profound intellectual disability.

Zidovudine monotherapy versus zidovudine plus zalcitabine combination therapy in HIV-positive persons with CD4 cell counts 300-500 cells/mm3: a double-blind controlled trial. The M50003 Study Group Coordinating and Writing Committee.

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

[Endovascular treatment of iliofemoral venous thrombosis].

[Lateral epicondylitis].

[Infiltrating basal cell carcinoma with perineural growth in a 15-year-old].

[Group A streptococcal toxic shock syndrome with influenza A and parapneumonic effusion].

[The significance of frailty in the assessment of polypharmacy and deprescribing].

[Nutrition in the prevention and treatment of frailty in older adults].

Neuropsychological and Educational Outcomes in Shwachman-Diamond Syndrome-A Report From the North American Shwachman-Diamond Syndrome Registry.

Sex-dependent prediction of autism.

DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure.

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

Gametocyte-Specific Factor 1 Is Essential for Male Fertility and Transposon Homeostasis in Plutella xylostella.

Peripheral Hematological and Immune-Endocrine Markers in Children with Specific Learning Disorder: An Exploratory Retrospective Case-Control Study.

Related Experiment Videos

[Focal dermal hypoplasia. Goltz's syndrome]

Related Concept Videos

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