Partial proximal trisomy 15 (p ter----q 14) in a young girl

[Genotyping and molecular epidemiology of non polyomyelitic enteroviruses].

Virologie (Montrouge, France)·2022

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Orphanet journal of rare diseases·2022

Implication of non-coding PAX6 mutations in aniridia.

Human genetics·2018

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Neurogenetics·2018

FOXE3 mutations: genotype-phenotype correlations.

Clinical genetics·2017

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

European journal of medical genetics·2014

Breast carcinoma metastasizing to an adrenocortical adenoma: a case of tumour-to-tumour metastasis.

Pathologica·2026

Metastatic melanoma with heterologous bone after neoadjuvant immunotherapy: diagnostic insights.

Pathologica·2026

Lymphangitic breast cancer in explanted lungs with interstitial lung disease: an unexpected finding.

Pathologica·2026

Histological insights into sudden, unexpected death due to tuberculosis: two autopsy case reports and review of the literature.

Pathologica·2026

Teaching with human remains: curatorship, technological innovation and ethical engagement at the Morgagni Museum of Human Anatomy.

Pathologica·2026

Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.

Pathologica·2026

Clinical Outcomes of Younger Adults With Philadelphia-Negative Acute Lymphoblastic Leukemia, Treated With A Pediatric-Like Regimen Based on the GIMEMA LAL1308 Protocol. A Campus ALL Study.

European journal of haematology·2026

Left ventricular rotational mechanics in children with dilated cardiomyopathy: reverse apical rotation indicates a poor prognosis.

Cardiology in the young·2026

Amniotic Band Syndrome: A 14-Year-Old Follow-Up Case Report.

Case reports in orthopedics·2026

Iron Deficiency Anemia in Female Adolescents: An Epidemiological Study From Eastern Iran-A Cross-Sectional Study.

Health science reports·2026

Core Elements of the Stunting Prevention Model to Improve Adolescents' Quality of Life.

Journal of multidisciplinary healthcare·2026

Perioperative Management of Presumed Schwartz-Jampel Syndrome During Complex Pediatric Spinal Fusion: A Case Report.

Case reports in anesthesiology·2026

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Partial proximal trisomy 15 (p ter----q 14) in a young girl

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[Genotyping and molecular epidemiology of non polyomyelitic enteroviruses].

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Implication of non-coding PAX6 mutations in aniridia.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

FOXE3 mutations: genotype-phenotype correlations.

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Breast carcinoma metastasizing to an adrenocortical adenoma: a case of tumour-to-tumour metastasis.

Metastatic melanoma with heterologous bone after neoadjuvant immunotherapy: diagnostic insights.

Lymphangitic breast cancer in explanted lungs with interstitial lung disease: an unexpected finding.

Histological insights into sudden, unexpected death due to tuberculosis: two autopsy case reports and review of the literature.

Teaching with human remains: curatorship, technological innovation and ethical engagement at the Morgagni Museum of Human Anatomy.

Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.

Clinical Outcomes of Younger Adults With Philadelphia-Negative Acute Lymphoblastic Leukemia, Treated With A Pediatric-Like Regimen Based on the GIMEMA LAL1308 Protocol. A Campus ALL Study.

Left ventricular rotational mechanics in children with dilated cardiomyopathy: reverse apical rotation indicates a poor prognosis.

Amniotic Band Syndrome: A 14-Year-Old Follow-Up Case Report.

Iron Deficiency Anemia in Female Adolescents: An Epidemiological Study From Eastern Iran-A Cross-Sectional Study.

Core Elements of the Stunting Prevention Model to Improve Adolescents' Quality of Life.

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Partial proximal trisomy 15 (p ter----q 14) in a young girl

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