Presymptomatic testing in families with Wilson's disease

Evaluation of clinical, laboratory, radiographical and histopathological characteristics in patients with spinal tuberculosis in the context of HIV infection: An analysis of 52 patients from a South African tertiary hospital.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde·2024

A retrospective cohort study of 27,049 polytraumatized patients age 60 and above: identifying changes over 16 years.

European geriatric medicine·2021

Ordinary injury, big surprise - Traumatic false aneurysm and arteriovenous fistula of the posterior tibial artery after civilian trauma: A case report.

Trauma case reports·2021

Neuromuscular responses of the plantar flexors to whole-body vibration.

Scandinavian journal of medicine & science in sports·2016

Searching for genes in Schizophrenia.

Acta neuropsychiatrica·2016

Evidence of CNIH3 involvement in opioid dependence.

Molecular psychiatry·2015

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Lancet (London, England)·2026

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Switch to once-weekly, single-tablet islatravir-lenacapavir from daily standard of care for HIV-1 (ISLEND-2): a multicentre, randomised, open-label, active-controlled, phase 3 non-inferiority trial.

Lancet (London, England)·2026

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Lancet (London, England)·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

The first 25 years of the NICHD Structural Birth Defects Initiative.

Developmental biology·2026

Related Experiment Videos

Presymptomatic testing in families with Wilson's disease

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Evaluation of clinical, laboratory, radiographical and histopathological characteristics in patients with spinal tuberculosis in the context of HIV infection: An analysis of 52 patients from a South African tertiary hospital.

A retrospective cohort study of 27,049 polytraumatized patients age 60 and above: identifying changes over 16 years.

Ordinary injury, big surprise - Traumatic false aneurysm and arteriovenous fistula of the posterior tibial artery after civilian trauma: A case report.

Neuromuscular responses of the plantar flexors to whole-body vibration.

Searching for genes in Schizophrenia.

Evidence of CNIH3 involvement in opioid dependence.

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Switch to once-weekly, single-tablet islatravir-lenacapavir from daily standard of care for HIV-1 (ISLEND-2): a multicentre, randomised, open-label, active-controlled, phase 3 non-inferiority trial.

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

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Presymptomatic testing in families with Wilson's disease

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