Tatjana Bierhals

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

Jesse M. Levine, Daniel G. Calame, Riccardo Sangermano, Haowei Du et autres

us, de, tr, sa, kw, Égypte (code pays fourni par la source)

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian et autres

fr, de, ca, ir, jp, br, us, no, nl, at, cn, es, si, rs, lv, tr (code pays fourni par la source)

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson et autres

Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndrome

Dong Li, Qin Wang, Yuan‐Hua Chen, Michael March et autres

us, cn, lu, de, it, hu, ch, hk (code pays fourni par la source)

Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk

Simone Pelizzari, Marta Campiglio, Yousra El Ghaleb, Tatjana Bierhals et autres

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Germline mutations in a G protein identify signaling cross-talk in T cells

Hyoungjun Ham, Huie Jing, Ian T. Lamborn, M. Kober et autres

us, ch, fr, de, au, kw, pl, nl, fi, gb, se, ru (code pays fourni par la source)

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease

Maya M. Polovitskaya, Tanushka Rana, Kurt Ullrich, Simona Murko et autres

de (code pays fourni par la source)

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Anna Worthmann, Julius Ridder, Sharlaine Piel, Ioannis Evangelakos et autres

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Prolonged Apnea in a Boy with Epilepsy and a Novel Gain-of-Function Missense Cacna1a Variant Indicating Sudep Risk

Jessika Johannsen, Simone Pelizzari, Marta Campiglio, Yousra El Ghaleb et autres

Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans

Fatemeh Hassani Nia, Daniel Woike, Isabel Bento, Stephan Niebling et autres

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype

Dzhoy Papingi, Tatjana Bierhals, Alexander E. Volk, Michael Kutsche et autres

de (code pays fourni par la source)

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Berardo Rinaldi, Allan Bayat, Linda G. Zachariassen, Jiahui Sun et autres

it, dk, cn, ca, de, fr, us, nl, ie, mx, gb, au, il, ch (code pays fourni par la source)