Genetic aspects of fetal disease

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.

Forensic science international·2017

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Clinical genetics·2013

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

Clinical genetics·2010

Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

Nucleosides, nucleotides & nucleic acids·2010

Monitoring and treatment of anti-D in pregnancy.

Vox sanguinis·2010

Feto-maternal interactions in pregnancies: placental microparticles activate peripheral blood monocytes.

Placenta·2009

Advancing the science of Staphylococcus aureus infection prevention in the neonatal intensive care unit.

Seminars in perinatology·2026

The uprise of congenital syphilis in the United States: a preventable failure of perinatal systems.

Seminars in perinatology·2026

Does Low-dose Aspirin prevent preeclampsia or merely delay it?

Seminars in perinatology·2026

The impact of gastrointestinal motility on feeding tolerance in the very preterm infant.

Seminars in perinatology·2026

Congenital cytomegalovirus: Screening strategies and diagnostic challenges.

Seminars in perinatology·2026

Enteral nutrition to optimize health and neurodevelopmental outcomes in very preterm infants.

Seminars in perinatology·2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

American journal of medical genetics. Part A·2026

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male Infertility.

Human mutation·2026

Functional genomics in Xenopus identifies ARHGAP10 as a congenital heart disease and ciliopathy gene.

iScience·2026

Whole-genome and pan-genome analyses reveal genomic differences among nontypeable Haemophilus influenzae isolates from bronchiectasis, community-acquired pneumonia, and chronic obstructive pulmonary disease.

Frontiers in cellular and infection microbiology·2026

Characterisation of a Novel HLA-DQA1 Allele by Next Generation Sequencing: HLA-DQA1*01:03:13.

HLA·2026

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Related Experiment Videos

Genetic aspects of fetal disease

Related Concept Videos

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

Monitoring and treatment of anti-D in pregnancy.

Feto-maternal interactions in pregnancies: placental microparticles activate peripheral blood monocytes.

Advancing the science of Staphylococcus aureus infection prevention in the neonatal intensive care unit.

The uprise of congenital syphilis in the United States: a preventable failure of perinatal systems.

Does Low-dose Aspirin prevent preeclampsia or merely delay it?

The impact of gastrointestinal motility on feeding tolerance in the very preterm infant.

Congenital cytomegalovirus: Screening strategies and diagnostic challenges.

Enteral nutrition to optimize health and neurodevelopmental outcomes in very preterm infants.

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male Infertility.

Functional genomics in Xenopus identifies ARHGAP10 as a congenital heart disease and ciliopathy gene.

Whole-genome and pan-genome analyses reveal genomic differences among nontypeable Haemophilus influenzae isolates from bronchiectasis, community-acquired pneumonia, and chronic obstructive pulmonary disease.

Characterisation of a Novel HLA-DQA1 Allele by Next Generation Sequencing: HLA-DQA1*01:03:13.

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Related Experiment Videos

Genetic aspects of fetal disease

Related Concept Videos

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