[Mendelian genetics of congenital malformations in humans]

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

American journal of medical genetics·1992

Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.

Prenatal diagnosis·1991

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.

American journal of medical genetics·1990

Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.

Ophthalmic paediatrics and genetics·1990

[Heredity in congenital dislocation of the hip].

Acta orthopaedica Belgica·1990

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Annales de pediatrie·1990

[Retinal intoxication with tamoxifen treatment for breast cancer].

Revue medicale de Liege·2026

[Volontary poisoning with yew ( Taxus baccata) : a fatal case].

Revue medicale de Liege·2026

[Pseudotumor on metal debris after total hip arthroplasty].

Revue medicale de Liege·2026

[Management of post-traumatic tibiotalar osteoarthritis following a failed osteosynthesis : retrograde plantar nailing].

Revue medicale de Liege·2026

[Femoral neck stress fracture in a young female runner].

Revue medicale de Liege·2026

[Arthroscopy of the hip : modern times surgery].

Revue medicale de Liege·2026

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Clinical laboratory·2026

Audiological Features in Pendred Syndrome: A Scoping Review.

The journal of international advanced otology·2026

Synergistic Interaction Between PEAR1-FGB and the Dominant Role of ABCB1 in Thrombosis Risk: A SHAP and MDR-Based Study in Vietnamese Pedigrees.

Journal of blood medicine·2026

Mitochondrial Function-Related Genes in Sleep Disorders: A Multi-Omics Mendelian Randomization Study.

Journal of molecular neuroscience : MN·2026

Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree.

Frontiers in endocrinology·2026

Multi-trait GWAS identifies pleiotropic loci shared between early pregnancy bleeding and psychiatric traits.

Frontiers in psychiatry·2026

Related Experiment Videos

[Mendelian genetics of congenital malformations in humans]

Related Concept Videos

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.

Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.

[Heredity in congenital dislocation of the hip].

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

[Retinal intoxication with tamoxifen treatment for breast cancer].

[Volontary poisoning with yew ( Taxus baccata) : a fatal case].

[Pseudotumor on metal debris after total hip arthroplasty].

[Management of post-traumatic tibiotalar osteoarthritis following a failed osteosynthesis : retrograde plantar nailing].

[Femoral neck stress fracture in a young female runner].

[Arthroscopy of the hip : modern times surgery].

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Audiological Features in Pendred Syndrome: A Scoping Review.

Synergistic Interaction Between PEAR1-FGB and the Dominant Role of ABCB1 in Thrombosis Risk: A SHAP and MDR-Based Study in Vietnamese Pedigrees.

Mitochondrial Function-Related Genes in Sleep Disorders: A Multi-Omics Mendelian Randomization Study.

Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree.

Multi-trait GWAS identifies pleiotropic loci shared between early pregnancy bleeding and psychiatric traits.

Related Experiment Videos

[Mendelian genetics of congenital malformations in humans]

Related Concept Videos

Related Articles