A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant into a key diagnostic insight.

Read the article: https://doi.org/10.1002/ajmg.a.64275

Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS

Tanskalaistutkimuksessa havaittiin, että hyvätuloisten veronalennus innosti heitä hakeutumaan parempipalkkaisiin töihin.

Miksi juuri suurituloisten uskotaan kasvattavan tienestejään, jos heidän verojaan alennetaan?

La Carovana dei Ghiacciai 2025 parte dal Passo del Tonale, tra il Presena - coperto da enormi teli geotessili - e l’Adamello, il più grande ghiacciaio d’Italia, oggi in rapido ritiro. In questa puntata raccontiamo la tensione tra memoria e futuro: le estati in cui si sciava sul Presena, le misurazioni dei glaciologi, le fragilità idriche che emergono con la perdita del ghiaccio e le scelte politiche che diventano inevitabili.
Con le voci di Angela Marconi, Valter Maggi, Vanda Bonardo, Andrea Goltara, Veronica Vismara e Agnese Moroni, e i suoni del flash mob che ha aperto la Carovana.

 “Dove il ghiaccio scompare” è un podcast di CIPRA Italia, con il sostegno di Fondazione Cariplo. Testi e voce di Sofia Farina, sound design e musiche originali di Giorgio Tidei.

Maggiori informazioni: https://www.cipra.org/it/notizie/dove-il-ghiaccio-scompare


#95/1 (it) Dove il ghiaccio scompare - Presena e Adamello

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Disclaimer: The views, information, or opinions expressed during the Global Health Matters podcast series are solely those of the individuals involved and do not necessarily represent those of TDR or the World Health Organization.

All content © 2025 Global Health Matters.

Dialogues - A conversation with Alex Brewis on stigma, empathy and equity

https://www.instagram.com/reel/DRU7BQLDx15

Certified at least one bass face | 08-12-2025

The Eldritch Deity's Final Screams

Аудио: Хайку-Конспект Урока
9 декабря 2025
1. Вера выше знания (Урок в записи от 12 ноября 2020 г.)
2. Урок Рабаша по ТЭС
3. Зоар. Берешит - 1 (Читаем Зоар)

Kab-haiku Dec09

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Global Health Matters podcast - bringing you experienced and emerging voices in research and health

This podcast is filled with innovative and inspiring episodes on how health for all can be achieved.  The host of our podcast, Dr Garry Aslanyan (https://twitter.com/GarryAslanyan), discusses thought-provoking topics such as access to medicines, science diplomacy, the future of public health programmes in a post-pandemic world, diversity in global health and many more. You’ll hear from renowned experts and emerging voices with a focus on low- and middle-income country perspectives.

For more information, please visit: https://tdr.who.int/global-health-matters-podcast

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Interviews, background talks and voices from all Alpine countries: Listen to this and more in the podcast of the International Commission for the Protection of the Alps, CIPRA International.
www.cipra.org (Website languages: de, fr, sl, it, en)

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

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