Found: 14
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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.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13095, doi. 10.3390/ijms232113095
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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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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
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- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
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Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
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- Article
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2860, doi. 10.1002/ajmg.a.34268
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Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #656 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/656.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 341, doi. 10.1002/humu.9185
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Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)
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- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf
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- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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- Article
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy.
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- Human Mutation, 2022, v. 43, n. 12, p. 2222, doi. 10.1002/humu.24488
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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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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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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
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- Human Mutation, 2011, v. 32, n. 7, p. 760, doi. 10.1002/humu.21492
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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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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