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Showing results (221-230 of 224) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.
American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
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Showing results (221-230 of 224) with videos related to

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Pageof 23
You have reached the last page of results.This site can display upto 224 results.
Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.
American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
Pageof 23