Found: 21
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Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13095, doi. 10.3390/ijms232113095
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- Article
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1203
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- Article
Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes.
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- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/306098
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- Article
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2084, doi. 10.1002/ajmg.a.36591
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- Article
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123092
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- Article
Metastasierendes Zylindrokarzinom beim Brooke‐Spiegler‐Syndrom ‐ Fallbericht und Literaturübersicht.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 1, p. 125, doi. 10.1111/ddg.14227_g
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- Article
Metastatic cylindrocarcinoma in Brooke‐Spiegler Syndrome – Report of a case and review of the literature.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 1, p. 125, doi. 10.1111/ddg.14227
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- Publication type:
- Article
Sindrome di Birt-Hogg-Dubè (BHDs), questa sconosciuta! Una variante con nuova sequenza genomica.
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- Rassegna di Patologia dell'Apparato Respiratorio, 2017, v. 32, n. 6, p. 307
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- Article
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 268, doi. 10.1111/cge.13994
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- Article
Corrigendum.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 942, doi. 10.1002/ajmg.a.33304
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- Article
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2222, doi. 10.1002/humu.24488
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- Article
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
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- Human Mutation, 2022, v. 43, n. 7, p. 832, doi. 10.1002/humu.24371
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- Article
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
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- Human Mutation, 2020, v. 41, n. 6, p. 1183, doi. 10.1002/humu.24012
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- Article
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
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- Human Mutation, 2019, v. 40, n. 9, p. 1346, doi. 10.1002/humu.23822
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- Article
Expanding the Mutational Spectrum of CRLF1 in Crisponi/ CISS1 Syndrome.
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- Human Mutation, 2014, v. 35, n. 4, p. 424, doi. 10.1002/humu.22522
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- Article
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
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- Human Mutation, 2012, v. 33, n. 3, p. 457, doi. 10.1002/humu.22020
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- Article
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
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- Human Mutation, 2009, v. 30, n. 3, p. 438, doi. 10.1002/humu.20912
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- Article
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
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- 2024
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- Correction Notice
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
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- 2024
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- Publication type:
- Correction Notice
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
- Published in:
- BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
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- Article
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
- Published in:
- BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
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- Publication type:
- Article