Pages that link to "Q36715761"
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The following pages link to The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees (Q36715761):
Displaying 30 items.
- Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia (Q21202866) (← links)
- Congenital malformations of the human brainstem (Q30909326) (← links)
- Natural course of pontocerebellar hypoplasia type 2A. (Q33604671) (← links)
- Human malformations of the midbrain and hindbrain: review and proposed classification scheme (Q34271111) (← links)
- Pontocerebellar hypoplasia type 2: a neuropathological update. (Q34581239) (← links)
- Cerebellar hypoplasias (Q34597449) (← links)
- tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia (Q34810320) (← links)
- TSEN54 mutations cause pontocerebellar hypoplasia type 5 (Q35031027) (← links)
- Magnetic resonance imaging of the kinked fetal brain stem: a sign of severe dysgenesis (Q35222388) (← links)
- Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. (Q37337037) (← links)
- A developmental and genetic classification for midbrain-hindbrain malformations (Q37472322) (← links)
- EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations (Q37591399) (← links)
- Diffusion tensor imaging and fiber tractography in brain malformations (Q38071553) (← links)
- Fusion of the cerebellar hemispheres ventral to the brainstem: a rare hindbrain-related malformation. (Q40458881) (← links)
- A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. (Q41158693) (← links)
- Pontocerebellar hypoplasia type 2 and Reye-like syndrome (Q41923009) (← links)
- Pontocerebellar hypoplasia in two siblings with dysmorphic features (Q41923065) (← links)
- Fatal outcome in a case of pontocerebellar hypoplasia type 2. (Q41924384) (← links)
- Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings (Q41924721) (← links)
- Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. (Q41932793) (← links)
- Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia (Q41936197) (← links)
- Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype (Q48106115) (← links)
- Genetic mutation in pontocerebellar hypoplasia (Q48440559) (← links)
- Pontine hypoplasia in a child with sensorineural deafness (Q48613522) (← links)
- A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers (Q48739819) (← links)
- TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. (Q49165943) (← links)
- Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. (Q52140298) (← links)
- Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? (Q55054270) (← links)
- What's new in pontocerebellar hypoplasia? An update on genes and subtypes. (Q55441218) (← links)
- Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? (Q55618076) (← links)