Type C brachydactyly transmitted through four generations

EASIX Does Not Add Prognostic Value Beyond Lactate Dehydrogenase and ECOG Performance Status in CAR T-Cell Therapy: A GETH-TC Study.

Transplantation and cellular therapy·2025

Thiotepa, busulfan and fludarabine conditioning regimen for adult patients with lymphoid malignancies undergoing allogeneic stem cell transplantation: a study on behalf of GETH-TC.

Bone marrow transplantation·2025

ITER full model in MCNP for radiation safety demonstration.

Nature communications·2024

Incidence, risk factors and therapy response of acute graft-versus-host disease after myeloablative hematopoietic stem cell transplantation with posttransplant cyclophosphamide.

Bone marrow transplantation·2024

Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024

Addressing mechanism bias in model-based impact forecasts of new tuberculosis vaccines.

Nature communications·2023

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Pediatric blood & cancer·2026

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Frontiers in pediatrics·2026

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

European journal of human genetics : EJHG·2026

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Annals of medicine·2026

Familial short stature: genetic architecture, risk stratification, and precision management.

Frontiers in endocrinology·2026

Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

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Type C brachydactyly transmitted through four generations

Related Concept Videos

EASIX Does Not Add Prognostic Value Beyond Lactate Dehydrogenase and ECOG Performance Status in CAR T-Cell Therapy: A GETH-TC Study.

Thiotepa, busulfan and fludarabine conditioning regimen for adult patients with lymphoid malignancies undergoing allogeneic stem cell transplantation: a study on behalf of GETH-TC.

ITER full model in MCNP for radiation safety demonstration.

Incidence, risk factors and therapy response of acute graft-versus-host disease after myeloablative hematopoietic stem cell transplantation with posttransplant cyclophosphamide.

Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.

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Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

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Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.

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Type C brachydactyly transmitted through four generations

Abstract:

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