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Language : abkhazian Language : english Language : italian Language : kannada Language : kashubian Language : nepali Language : welsh Publisher : egyptian society of human genetics Filter by : Subject
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Academic Journal

Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management.

Subjects: *SYMPTOMS; *THERAPEUTICS; *DISEASE complications

  • Source: Egyptian Journal of Medical Human Genetics. 3/27/2024, Vol. 25 Issue 1, p1-10. 10p.

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Academic Journal

Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey.

Subjects: *CONSANGUINITY; *CONGENITAL disorders; *MARRIAGE ageMOROCCO

  • Source: Egyptian Journal of Medical Human Genetics. 3/5/2024, Vol. 25 Issue 1, p1-12. 12p.

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Academic Journal

Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis.

Subjects: *FAMILIAL spastic paraplegia; *MUSCLE weakness; *NEURAL development

  • Source: Egyptian Journal of Medical Human Genetics. 10/23/2023, Vol. 24 Issue 1, p1-9. 9p.

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Academic Journal

Vici syndrome in an Egyptian infant: case report and differential diagnosis of inherited hypopigmented disorders.

Subjects: *AGENESIS of corpus callosum; *DIFFERENTIAL diagnosis; *GENETIC disorders

  • Source: Egyptian Journal of Medical Human Genetics. 12/11/2020, Vol. 21 Issue 1, p1-6. 6p.

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Academic Journal

Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype.

Subjects: *CLUBFOOT; *AGENESIS of corpus callosum; *FETAL ultrasonic imaging

  • Source: Egyptian Journal of Medical Human Genetics. 11/23/2020, Vol. 21 Issue 1, p1-6. 6p.

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Academic Journal

A case of spastic paraplegia type 11 with a variation in the SPG11 gene.

Subjects: *PARAPLEGIA; *LEARNING disabilities; *DISABILITIES

  • Source: Egyptian Journal of Medical Human Genetics. 7/15/2020, Vol. 21 Issue 1, p1-5. 5p.

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Academic Journal

The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report.

Subjects: *CHROMOSOMAL rearrangement; *CORPUS callosum; *CYTOGENETICS

  • Source: Egyptian Journal of Medical Human Genetics. Oct2018, Vol. 19 Issue 4, p437-441. 5p.

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Academic Journal

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child.

Subjects: *SKELETAL muscle; *AGENESIS of corpus callosum; *EGYPTIANS

  • Source: Egyptian Journal of Medical Human Genetics. Jan2017, Vol. 18 Issue 1, p93-97. 5p.

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Academic Journal

Corpus callosum defect with dilated lateral ventricles and an occipital cyst in an Egyptian child with Diamond-Blackfan anemia.

Subjects: *CORPUS callosum; *JUVENILE diseases; *BONE marrow diseasesEGYPT

  • Source: Egyptian Journal of Medical Human Genetics. 2010, Vol. 11 Issue 1, p85-90. 6p. 1 Color Photograph, 1 Chart.

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  • 1-9 of  9 results for ""corpus""