The crucial band for phenotype of trisomy 18

Patient-reported outcomes in large vessel vasculitis: insights from a retrospective analysis of disease activity and associated factors.

Journal of patient-reported outcomes·2024

[Social media-Chances and risks for rheumatology].

Zeitschrift fur Rheumatologie·2022

MRI-based contrast clearance analysis shows high differentiation accuracy between radiation-induced reactions and progressive disease after cranial radiotherapy.

ESMO open·2022

[Paths to academic rheumatology].

Zeitschrift fur Rheumatologie·2020

[Mission statement from rheumatologists in the German Society of Rheumatology (DGRh e. V.) : We live rheumatology. German version].

Zeitschrift fur Rheumatologie·2020

Mission statement from rheumatologists in the German Society of Rheumatology (DGRh e. V.) : We live rheumatology.

Zeitschrift fur Rheumatologie·2020

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Human genetics·2026

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Human genetics·2026

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Sex-specific biological aging clocks across organs and omics.

Nature medicine·2026

Maternal-fetal immune conflict contributes to male-specific impairments in a mouse model of neurodevelopmental disorders.

Science advances·2026

A 21-Year Diagnostic Odyssey in TBC1D24-Associated Developmental and Epileptic Encephalopathy With Favorable Response to Corpus Callosotomy: A Case Report.

Cureus·2026

Male Goltz Syndrome due to Postzygotic PORCN Mosaicism: A Case Report.

Case reports in dermatological medicine·2026

Characterization of ntrk receptors and bdnf ligand in Cynoglossus semilaevis provides molecular insights into sexual size dimorphism regulation in flatfish.

Comparative biochemistry and physiology. Part A, Molecular & integrative physiology·2026

Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant.

Jornal brasileiro de nefrologia·2026

Related Experiment Videos

The crucial band for phenotype of trisomy 18

Related Concept Videos

Patient-reported outcomes in large vessel vasculitis: insights from a retrospective analysis of disease activity and associated factors.

[Social media-Chances and risks for rheumatology].

MRI-based contrast clearance analysis shows high differentiation accuracy between radiation-induced reactions and progressive disease after cranial radiotherapy.

[Paths to academic rheumatology].

[Mission statement from rheumatologists in the German Society of Rheumatology (DGRh e. V.) : We live rheumatology. German version].

Mission statement from rheumatologists in the German Society of Rheumatology (DGRh e. V.) : We live rheumatology.

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Sex-specific biological aging clocks across organs and omics.

Maternal-fetal immune conflict contributes to male-specific impairments in a mouse model of neurodevelopmental disorders.

A 21-Year Diagnostic Odyssey in TBC1D24-Associated Developmental and Epileptic Encephalopathy With Favorable Response to Corpus Callosotomy: A Case Report.

Male Goltz Syndrome due to Postzygotic PORCN Mosaicism: A Case Report.

Characterization of ntrk receptors and bdnf ligand in Cynoglossus semilaevis provides molecular insights into sexual size dimorphism regulation in flatfish.

Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant.

Related Experiment Videos

The crucial band for phenotype of trisomy 18

Related Concept Videos

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