Prenatal diagnosis of microcephaly

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Nature communications·2015

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Human mutation·2009

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2009

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Journal of medical genetics·2008

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

American journal of medical genetics. Part A·2007

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

Neuropediatrics·2004

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

Prenatal diagnosis·2026

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.

Prenatal diagnosis·2026

The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations.

Prenatal diagnosis·2026

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.

Prenatal diagnosis·2026

Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy-A Narrative Review.

Prenatal diagnosis·2026

Quantitative MRI Assessment of Gyrification and Brain Volume in Congenital Cytomegalovirus Fetuses and Postnatal Outcome.

Prenatal diagnosis·2026

Enhancing Care for Lactation After a Second Trimester Abortion or Fetal Loss: A Qualitative Study.

Journal of human lactation : official journal of International Lactation Consultant Association·2026

Lumbar microspur-related ventral cerebrospinal fluid leak localized by digital subtraction myelography: A case report.

Radiology case reports·2026

Pregnant women's experiences during a public health emergency: A cross-sectional analysis of the COVID-19 Pregnancy Risk Assessment Monitoring System COVID-19 supplement.

Public health in practice (Oxford, England)·2026

Related Experiment Videos

Prenatal diagnosis of microcephaly

Related Concept Videos

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.

The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations.

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.

Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy-A Narrative Review.

Quantitative MRI Assessment of Gyrification and Brain Volume in Congenital Cytomegalovirus Fetuses and Postnatal Outcome.

Enhancing Care for Lactation After a Second Trimester Abortion or Fetal Loss: A Qualitative Study.

Lumbar microspur-related ventral cerebrospinal fluid leak localized by digital subtraction myelography: A case report.

Pregnant women's experiences during a public health emergency: A cross-sectional analysis of the COVID-19 Pregnancy Risk Assessment Monitoring System COVID-19 supplement.

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Prenatal diagnosis of microcephaly

Related Concept Videos

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