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TERRESTRIAL ANALOG STUDIES OF SEDIMENTARY VOLCANISM FOR MARS SCIENCE AND MISSIONS.
- Published in:
- LPI Contribution, 2021, p. 1
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- Publication type:
- Article
PRUNE1‐related disorder: Expanding the clinical spectrum.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 3/4, p. 362, doi. 10.1111/cge.13385
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- Publication type:
- Article
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
- Published in:
- 2018
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- Publication type:
- Case Study
Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 2, p. 232, doi. 10.1111/cge.13371
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- Publication type:
- Article
Confirmation of SLC5A7‐related distal hereditary motor neuropathy 7 in a family outside Wales.
- Published in:
- 2018
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- Publication type:
- Case Study
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 266, doi. 10.1111/cge.13061
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- Publication type:
- Article
Increased Insulin Resistance and Glucagon Levels in Mild/Inactive Systemic Lupus Erythematosus Patients Despite Normal Glucose Tolerance.
- Published in:
- 2018
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- Publication type:
- journal article
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 5, p. 554, doi. 10.1111/cge.13023
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- Publication type:
- Article
Response to Lefebvre et al.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 5, p. 563, doi. 10.1111/cge.13011
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- Publication type:
- Article
Detection of Fomitiporia torreyae and Fulviformes umbrinellus by multiplex loop-mediated isothermal amplification ( mLAMP) for diagnosis of Japanese pear dwarf.
- Published in:
- Annals of Applied Biology, 2017, v. 170, n. 2, p. 170, doi. 10.1111/aab.12325
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- Publication type:
- Article
Reduced Aerobic Capacity and Quality of Life in Physically Inactive Patients With Systemic Lupus Erythematosus With Mild or Inactive Disease.
- Published in:
- 2016
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- Publication type:
- journal article
Molecular genetic analysis of 30 families with Joubert syndrome.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 6, p. 526, doi. 10.1111/cge.12836
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- Publication type:
- Article
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 276, doi. 10.1111/cge.12767
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- Publication type:
- Article
Delineation of clinical features in Wiedemann--Steiner syndrome caused by KMT2A mutations.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 1, p. 115, doi. 10.1111/cge.12586
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- Publication type:
- Article
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 5, p. 455, doi. 10.1111/cge.12417
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- Publication type:
- Article
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 4, p. 356, doi. 10.1111/cge.12394
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- Publication type:
- Article
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 4, p. 395, doi. 10.1111/cge.12455
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- Publication type:
- Article
Development of loop-mediated isothermal amplification assay for the detection of Pythium myriotylum.
- Published in:
- Letters in Applied Microbiology, 2014, v. 59, n. 1, p. 49, doi. 10.1111/lam.12244
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- Publication type:
- Article
Coffin-Siris syndrome is a SWI/ SNF complex disorder.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 6, p. 548, doi. 10.1111/cge.12225
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- Publication type:
- Article
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 6, p. 592, doi. 10.1111/cge.12215
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- Publication type:
- Article
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 4, p. 396, doi. 10.1111/cge.12188
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- Publication type:
- Article
Long-term correction of biochemical and neurological abnormalities in MLD mice model by neonatal systemic injection of an AAV serotype 9 vector.
- Published in:
- Gene Therapy, 2014, v. 21, n. 4, p. 427, doi. 10.1038/gt.2014.17
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- Publication type:
- Article
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 2, p. 135, doi. 10.1111/j.1399-0004.2012.01885.x
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- Publication type:
- Article
Pharmacological treatment of schizophrenia: a critical review of the pharmacology and clinical effects of current and future therapeutic agents.
- Published in:
- Molecular Psychiatry, 2012, v. 17, n. 12, p. 1206, doi. 10.1038/mp.2012.47
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- Publication type:
- Article
Axel and DuAxel rovers for the sustainable exploration of extreme terrains.
- Published in:
- Journal of Field Robotics, 2012, v. 29, n. 4, p. 663, doi. 10.1002/rob.21407
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- Publication type:
- Article
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 4, p. 399, doi. 10.1111/j.1399-0004.2011.01733.x
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- Publication type:
- Article
Paternal mosaicism of an STXBP1 mutation in OS.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 5, p. 484, doi. 10.1111/j.1399-0004.2010.01575.x
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- Publication type:
- Article
A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 293, doi. 10.1111/j.1399-0004.2011.01644.x
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- Publication type:
- Article
Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 2, p. 161, doi. 10.1111/j.1399-0004.2011.01721.x
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- Publication type:
- Article
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.
- Published in:
- International Journal of Immunogenetics, 2011, v. 38, n. 4, p. 287, doi. 10.1111/j.1744-313X.2011.01005.x
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- Publication type:
- Article
Unbound or distant planetary mass population detected by gravitational microlensing.
- Published in:
- Nature, 2011, v. 473, n. 7347, p. 349, doi. 10.1038/nature10092
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- Publication type:
- Article
Activated K-Ras protein accelerates human MLL/AF4-induced leukemo-lymphomogenicity in a transgenic mouse model.
- Published in:
- 2011
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- Publication type:
- letter
Alu-related 5q35 microdeletions in Sotos syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 384, doi. 10.1111/j.1399-0004.2008.01032.x
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- Publication type:
- Article
Transiting exo-planets search for MOA-I data.
- Published in:
- Proceedings of the International Astronomical Union, 2008, v. 4, n. S253, p. 366, doi. 10.1017/S1743921308026665
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- Publication type:
- Article
HIV vector-mediated targeted suicide gene therapy for adult T-cell leukemia.
- Published in:
- Gene Therapy, 2007, v. 14, n. 23, p. 1662, doi. 10.1038/sj.gt.3303024
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- Publication type:
- Article
Novel role of HDAC inhibitors in AML1/ETO AML cells: activation of apoptosis and phagocytosis through induction of annexin A1.
- Published in:
- Cell Death & Differentiation, 2007, v. 14, n. 8, p. 1443, doi. 10.1038/sj.cdd.4402139
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- Publication type:
- Article
Antiangiogenic gene therapy of myeloproliferative disease developed in transgenic mice expressing P230 bcr/abl.
- Published in:
- Gene Therapy, 2005, v. 12, n. 6, p. 541, doi. 10.1038/sj.gt.3302427
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- Publication type:
- Article
1,25-Dihydroxyvitamin D<sub>3</sub> Promotes Vitamin K<sub>2</sub> Metabolism in Human Osteoblasts.
- Published in:
- Osteoporosis International, 2001, v. 12, n. 8, p. 680, doi. 10.1007/s001980170068
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- Publication type:
- Article
Association of autoimmune pancreatitis and type 1 diabetes: autoimmune exocrinopathy and endocrinopathy of the pancreas.
- Published in:
- 2000
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- Publication type:
- case study