産前診断 産前診断

Same author

Expanding the phenotypic spectrum of <i>MECOM</i>-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Journal of medical genetics·2026

Same author

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Genes·2023

Same author

Correction: The 2019 and 2021 International workshops on Alport syndrome.

European journal of human genetics : EJHG·2023

Same author

The 2019 and 2021 International Workshops on Alport Syndrome.

European journal of human genetics : EJHG·2022

Same author

Guidelines for Genetic Testing and Management of Alport Syndrome.

Clinical journal of the American Society of Nephrology : CJASN·2021

Same author

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

The New England journal of medicine·2021

Same journal

Assisted dying and the silencing of medicine's next generation.

Lancet (London, England)·2026

Same journal

Linguistic pragmatism: a woman with progressive abdominal pain in Thailand.

Lancet (London, England)·2026

Same journal

Medical compartmentalisation: a patient with chromosome 22q11.2 deletion syndrome in Japan.

Lancet (London, England)·2026

Same journal

[<sup>177</sup>Lu]Lu-edotreotide versus everolimus for gastroenteropancreatic neuroendocrine tumours (COMPETE): a phase 3, multicentre, randomised, open-label, superiority trial.

Lancet (London, England)·2026

Same journal

Research priorities for characterising Bundibugyo virus.

Lancet (London, England)·2026

Same journal

Rethinking treatment sequence in advanced gastroenteropancreatic neuroendocrine tumours.

Lancet (London, England)·2026

関連する実験動画

産前診断産前診断

関連する概念動画

Expanding the phenotypic spectrum of <i>MECOM</i>-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Correction: The 2019 and 2021 International workshops on Alport syndrome.

The 2019 and 2021 International Workshops on Alport Syndrome.

Guidelines for Genetic Testing and Management of Alport Syndrome.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Assisted dying and the silencing of medicine's next generation.

Linguistic pragmatism: a woman with progressive abdominal pain in Thailand.

Medical compartmentalisation: a patient with chromosome 22q11.2 deletion syndrome in Japan.

[<sup>177</sup>Lu]Lu-edotreotide versus everolimus for gastroenteropancreatic neuroendocrine tumours (COMPETE): a phase 3, multicentre, randomised, open-label, superiority trial.

Research priorities for characterising Bundibugyo virus.

Rethinking treatment sequence in advanced gastroenteropancreatic neuroendocrine tumours.

関連する実験動画

産前診断 産前診断

関連する概念動画

関連記事

Expanding the phenotypic spectrum of <i>MECOM</i>-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Correction: The 2019 and 2021 International workshops on Alport syndrome.

The 2019 and 2021 International Workshops on Alport Syndrome.

Guidelines for Genetic Testing and Management of Alport Syndrome.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Assisted dying and the silencing of medicine's next generation.

Linguistic pragmatism: a woman with progressive abdominal pain in Thailand.

Medical compartmentalisation: a patient with chromosome 22q11.2 deletion syndrome in Japan.

[<sup>177</sup>Lu]Lu-edotreotide versus everolimus for gastroenteropancreatic neuroendocrine tumours (COMPETE): a phase 3, multicentre, randomised, open-label, superiority trial.

Research priorities for characterising Bundibugyo virus.

Rethinking treatment sequence in advanced gastroenteropancreatic neuroendocrine tumours.

産前診断産前診断