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Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. e3048, doi. 10.1210/clinem/dgac147
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- Publication type:
- Article
Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5757, doi. 10.3390/ijms21165757
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- Article
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
- Published in:
- 2017
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- Publication type:
- journal article
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1263
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- Publication type:
- Article
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D68, doi. 10.1093/nar/gkw925
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- Publication type:
- Article
Live-cell imaging of circadian clock protein dynamics in CRISPR-generated knock-in cells.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24086-9
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- Publication type:
- Article
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2274, doi. 10.1002/ajmg.a.37798
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- Publication type:
- Article
Stable expansion of high‐grade serous ovarian cancer organoids requires a low‐Wnt environment.
- Published in:
- EMBO Journal, 2020, v. 39, n. 6, p. 1, doi. 10.15252/embj.2019104013
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- Publication type:
- Article
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00368
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- Publication type:
- Article
PBX1 is dispensable for neural commitment of RA-treated murine ES cells.
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- In Vitro Cellular & Developmental Biology Animal, 2009, v. 45, n. 5/6, p. 252, doi. 10.1007/s11626-008-9162-5
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- Publication type:
- Article
Multi-Parameter Analysis of Biobanked Human Bone Marrow Stromal Cells Shows Little Influence for Donor Age and Mild Comorbidities on Phenotypic and Functional Properties.
- Published in:
- Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02474
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- Publication type:
- Article
Detection of TP53 Mutations in Tissue or Liquid Rebiopsies at Progression Identifies ALK+ Lung Cancer Patients with Poor Survival.
- Published in:
- Cancers, 2019, v. 11, n. 1, p. 124, doi. 10.3390/cancers11010124
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- Publication type:
- Article
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210
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- Publication type:
- Article
Exonization of active mouse L1s: a driver of transcriptome evolution?
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- BMC Genomics, 2007, v. 8, p. 1, doi. 10.1186/1471-2164-8-392
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- Publication type:
- Article
L1Base: from functional annotation to prediction of active LINE-1 elements.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. suppl 1, p. d498
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- Publication type:
- Article
Impaired humoral and cellular immunity after SARS-CoV-2 BNT162b2 (tozinameran) prime-boost vaccination in kidney transplant recipients.
- Published in:
- 2021
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- Publication type:
- journal article
CpG Deamination Creates Transcription Factor–Binding Sites with High Efficiency.
- Published in:
- Genome Biology & Evolution, 2011, v. 3, p. 1304, doi. 10.1093/gbe/evr107
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- Publication type:
- Article
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
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- Science Translational Medicine, 2014, v. 6, n. 252, p. 1, doi. 10.1126/scitranslmed.3009262
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- Publication type:
- Article
Mutations in proteasome-related genes are associated with thyroid hemiagenesis.
- Published in:
- Endocrine (1355008X), 2017, v. 56, n. 2, p. 279, doi. 10.1007/s12020-017-1287-4
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- Publication type:
- Article
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 57, doi. 10.1038/nature10423
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- Publication type:
- Article
Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype.
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- Human Mutation, 2015, v. 36, n. 3, p. 327, doi. 10.1002/humu.22745
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- Publication type:
- Article
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 956, doi. 10.3390/genes12070956
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- Publication type:
- Article
IDENTIFICATION OF A MOLECULAR DEFECT IN A STILLBORN FETUS WITH PERINATAL LETHAL HYPOPHOSPHATASIA USING A DISEASE-ASSOCIATED GENOME SEQUENCING APPROACH.
- Published in:
- Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2016, v. 67, n. 1, p. 78, doi. 10.5114/pjp.2016.59480
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- Publication type:
- Article
Next-generation diagnostics and disease-gene discovery with the Exomiser.
- Published in:
- Nature Protocols, 2015, v. 10, n. 12, p. 1, doi. 10.1038/nprot.2015.124
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- Publication type:
- Article
Corrigendum to “Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate” [FEBS Lett. 580 (2006) 455–462]
- Published in:
- 2007
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- Publication type:
- Correction Notice
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate
- Published in:
- FEBS Letters, 2006, v. 580, n. 2, p. 455, doi. 10.1016/j.febslet.2005.12.038
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- Publication type:
- Article
In search of the prototype of nitric oxide synthase
- Published in:
- FEBS Letters, 2003, v. 554, n. 1/2, p. 1, doi. 10.1016/S0014-5793(03)01081-0
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- Publication type:
- Article
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
- Published in:
- BMC Medicine, 2011, v. 9, n. 1, p. 82, doi. 10.1186/1741-7015-9-82
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- Publication type:
- Article
Retrotransposition and mutation events yieldRap1 GTPases with differential signalling capacity.
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- BMC Evolutionary Biology, 2010, v. 10, p. 55, doi. 10.1186/1471-2148-10-55
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- Publication type:
- Article
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
- Published in:
- Bioinformatics, 2014, v. 30, n. 22, p. 3215, doi. 10.1093/bioinformatics/btu508
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- Publication type:
- Article
Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads.
- Published in:
- Bioinformatics, 2012, v. 28, n. 7, p. 1024, doi. 10.1093/bioinformatics/bts064
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- Publication type:
- Article
Alternate-locus aware variant calling in whole genome sequencing.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0383-z
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- Publication type:
- Article