PuSH - Publikationsserver des Helmholtz Zentrums München

Zeitschriften-Browsing

31 Datensätze gefunden.
Zum Exportieren der Ergebnisse bitte einloggen.
▮◀ ◀◀ 1 ... 2 ... ▶▶ ▶▮
Alle Publikationen dieser Seite in den Korb legen
1.
Asif, M.* et al.: Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia. Genet. Med. 26:101143 (2024)
2.
Ebstein, F.* et al.: Biallelic USP14 variants cause a syndromic neurodevelopmental disorder. Genet. Med. 26:101120 (2024)
3.
Averdunk, L.* et al.: Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genet. Med. 25:100836 (2023)
4.
Brunet, T.* et al.: De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. Genet. Med. 26:101013 (2023)
5.
Friedrich, U.A. et al.: A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children. Genet. Med. 25:100875 (2023)
6.
Maroofian, R.* et al.: Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder. Genet. Med. 26:101034 (2023)
7.
Park, J.* et al.: Erratum: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (Genetics in Medicine (2022) 24(10) (2079–2090), (S1098360022008437), (10.1016/j.gim.2022.07.006)). Genet. Med. 25:100961 (2023)
8.
Poggio, E.* et al.: ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. Genet. Med. 25:100971 (2023)
9.
Holtz, A.M.* et al.: Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet. Med. 24, 2065-2078 (2022)
10.
Meuwissen, M.* et al.: Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. Genet. Med. 24, 1583-1591 (2022)
11.
Oh, R.Y.* et al.: Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome. Genet. Med. 24, 2399-2407 (2022)
12.
Park, J.* et al.: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genet. Med. 24, 2079-2090 (2022)
13.
Vogel, G.F.* et al.: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet. Med. 25:100314 (2022)
14.
Brunet, T.* et al.: Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet. Med. 23, 384–395 (2021)
15.
Dworschak, G.C.* et al.: Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet. Med. 23, 1715–1725 (2021)
16.
Klöckner, C.* et al.: Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet. Med. 23:796 (2021)
17.
Tremblay-Laganière, C.* et al.: PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Genet. Med. 23, 1873-1881 (2021)
18.
Wortmann, S.B.* et al.: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genet. Med. 23, 1705-1714 (2021)
19.
Wortmann, S.B.* et al.: Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genet. Med., DOI: 10.1038/s41436-021-01280-0 (2021)
20.
Baertling, F.* et al.: Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia. Genet. Med. 22, 654-655 (2020)
▮◀ ◀◀ 1 ... 2 ... ▶▶ ▶▮