Three sisters with gonadoblastoma

Mucormycosis during Imatinib treatment: case report.

Journal of medicine and life·2015

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

Clinical genetics·1993

A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?

Genetic counseling (Geneva, Switzerland)·1992

Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.

Genetic counseling (Geneva, Switzerland)·1992

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

Annales de genetique·1992

A 22-year old female with the 9p deletion syndrome.

Endocrinologie·1990

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

A Hypoxia Associated STC2 High Endothelial Subpopulation is Linked to Lipid Metabolic Reprogramming, Pathological Angiogenesis, and Immune Remodeling in Head and Neck Squamous Cell Carcinoma.

International journal of general medicine·2026

Efficacy of Lenvatinib versus Bevacizumab in Triple Therapy with Immune Checkpoint Inhibitors and Interventional Therapy for Hepatocellular Carcinoma with Macrovascular Invasion: A Multi-Center Real-World Retrospective Study.

Journal of hepatocellular carcinoma·2026

Small extracellular vesicles from the plasma of head and neck cancer patients induce dysfunctional T cell phenotypes.

British journal of cancer·2026

Individual and systems level factors associated with odds of orchiectomy in testicular torsion in New York State.

Journal of pediatric urology·2026

USP11 exacerbates intestinal I/R injury by driving NCOA4-mediated ferritinophagy and ferroptosis via Beclin-1 deubiquitination.

International immunopharmacology·2026

Tumour-associated dsRNA accumulation and innate immune activation: mechanistic basis and therapeutic strategies.

EBioMedicine·2026

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Three sisters with gonadoblastoma

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Mucormycosis during Imatinib treatment: case report.

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?

Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

A 22-year old female with the 9p deletion syndrome.

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

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Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

A Hypoxia Associated STC2 High Endothelial Subpopulation is Linked to Lipid Metabolic Reprogramming, Pathological Angiogenesis, and Immune Remodeling in Head and Neck Squamous Cell Carcinoma.

Efficacy of Lenvatinib versus Bevacizumab in Triple Therapy with Immune Checkpoint Inhibitors and Interventional Therapy for Hepatocellular Carcinoma with Macrovascular Invasion: A Multi-Center Real-World Retrospective Study.

Small extracellular vesicles from the plasma of head and neck cancer patients induce dysfunctional T cell phenotypes.

Individual and systems level factors associated with odds of orchiectomy in testicular torsion in New York State.

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Three sisters with gonadoblastoma

Abstract:

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