Timothy Blake Palculict

Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

Michelle M. Morrow, Erin Torti, Bobbi McGivern, Ryan Gates et autres

us (code pays fourni par la source)

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Sureni V. Mullegama, Kaitlyn Kiernan, Erin Torti, Ethan Pavlovsky et autres

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Sureni V. Mullegama, Kaitlyn Kiernan, Erin Torti, Ethan Pavlovsky et autres

us, ca (code pays fourni par la source)

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

Stéphanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li et autres

it, gb, us, pk, jp (code pays fourni par la source)

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Ryan J. Schmidt, Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson et autres

us, ie, ca, gb, ky (code pays fourni par la source)

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaëtan Lesca et autres

de, fr, us (code pays fourni par la source)

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Calì, Mina Zamani et autres

gb, ir, Égypte, it, pk, tr, ae, se, iq, sa, de, dk, at, fi, us, il, kw, ch, lb, be, fr (code pays fourni par la source)

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk, Reshmi Ramakrishnan et autres

nl, sa, rs, de, gb, us, pk, Égypte, fr (code pays fourni par la source)

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

Cosima M. Schmid, Anne Gregor, Gregory Costain, Chantal F. Morel et autres

ch, ca, us, fr, il, de (code pays fourni par la source)

Supplementary Figure Legends from Hypoxia Triggers Hedgehog-Mediated Tumor–Stromal Interactions in Pancreatic Cancer

Taly R. Spivak-Kroizman, Galen Hostetter, Richard A. Posner, Meraj Aziz et autres

Supplementary Figure S1 from Hypoxia Triggers Hedgehog-Mediated Tumor–Stromal Interactions in Pancreatic Cancer

Taly R. Spivak-Kroizman, Galen Hostetter, Richard A. Posner, Meraj Aziz et autres

Supplementary Figure S2 from Hypoxia Triggers Hedgehog-Mediated Tumor–Stromal Interactions in Pancreatic Cancer

Taly R. Spivak-Kroizman, Galen Hostetter, Richard A. Posner, Meraj Aziz et autres