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In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04337-x
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- Publication type:
- Article
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.
- Published in:
- Hereditary Cancer in Clinical Practice, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s13053-021-00207-9
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- Publication type:
- Article
The added benefit of transvaginal sonography in the clinical staging of cervical carcinoma.
- Published in:
- 2020
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- Publication type:
- journal article
Identifying Subtypes of Alzheimer's Disease: An analysis of possible cognitive subgroups through the life span.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 7, p. 1, doi. 10.1002/alz.066207
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- Publication type:
- Article
BRCA1/2 mutation carriers vs the general breast cancer population (N = 799,986): 21-gene assay-based molecular characterization.
- Published in:
- Breast Cancer Research & Treatment, 2024, v. 206, n. 1, p. 67, doi. 10.1007/s10549-024-07271-4
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- Publication type:
- Article
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
- Published in:
- Breast Cancer Research & Treatment, 2021, v. 188, n. 3, p. 685, doi. 10.1007/s10549-021-06258-9
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- Publication type:
- Article
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 172, n. 1, p. 151, doi. 10.1007/s10549-018-4887-7
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- Publication type:
- Article
Exploring the relationship between boredom and sustained attention.
- Published in:
- Experimental Brain Research, 2012, v. 220, n. 3/4, p. 59, doi. 10.1007/s00221-012-3147-z
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- Publication type:
- Article
Two-Dimensional Sonographic Evaluation of Endometrial Polyps - Parameters That Are Reassuring.
- Published in:
- 2016
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- Publication type:
- journal article
The Toronto Cognitive Assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment.
- Published in:
- Alzheimer's Research & Therapy, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13195-018-0382-y
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- Publication type:
- Article
Correction to: The Toronto cognitive assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
The Toronto Cognitive Assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment.
- Published in:
- Alzheimer's Research & Therapy, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13195-018-0382-y
- By:
- Publication type:
- Article
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1990, doi. 10.1002/ajmg.a.62730
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- Publication type:
- Article
EQUIVALENCE OF IPAD AND PAPER VERSION OF THE BEHAVIOURAL NEUROLOGY ASSESSMENT-REVISED.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P904, doi. 10.1016/j.jalz.2016.06.1870
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- Publication type:
- Article
BEHAVIOURAL NEUROLOGY ASSESSMENT – REVISED: VALIDATION IN AMNESTIC MILD COGNITIVE IMPAIRMENT (AMCI).
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1160, doi. 10.1016/j.jalz.2016.07.073
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- Publication type:
- Article
Anagram software for cognitive research that enables specification of psycholinguistic variables.
- Published in:
- Behavior Research Methods, 2006, v. 38, n. 2, p. 196, doi. 10.3758/BF03192769
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- Publication type:
- Article
Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis.
- Published in:
- BMC Cancer, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12885-024-11975-7
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- Publication type:
- Article
Anderson's Disease.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1993, v. 16, n. 3, p. 257
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- Publication type:
- Article
The rare 13q33–q34 microdeletions: eight new patients and review of the literature.
- Published in:
- Human Genetics, 2019, v. 138, n. 10, p. 1145, doi. 10.1007/s00439-019-02048-y
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- Publication type:
- Article
MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00242-4
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- Publication type:
- Article
Abdominal Desmoid: Course, Severe Outcomes, and Unique Genetic Background in a Large Local Series.
- Published in:
- Cancers, 2021, v. 13, n. 15, p. 3673, doi. 10.3390/cancers13153673
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- Publication type:
- Article
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 52, doi. 10.1038/sj.ejhg.5201088
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- Publication type:
- Article
Dopamine Depletion Impairs Frontostriatal Functional Connectivity during a Set-Shifting Task.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 14, p. 3697, doi. 10.1523/JNEUROSCI.3921-07.2008
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- Publication type:
- Article
Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations.
- Published in:
- 2013
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- Publication type:
- Report
Solanum pennellii (LA5240) backcross inbred lines (BILs) for high resolution mapping in tomato.
- Published in:
- Plant Journal, 2024, v. 119, n. 1, p. 595, doi. 10.1111/tpj.16755
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- Publication type:
- Article
Correlations between pathogenic variants in DNA repair genes and anticancer treatment efficacy in stage IV non‐small cell lung cancer: A large real‐world cohort and review of the literature.
- Published in:
- Thoracic Cancer, 2023, v. 14, n. 17, p. 1589, doi. 10.1111/1759-7714.14902
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- Publication type:
- Article
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 275, doi. 10.1111/cge.14344
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- Publication type:
- Article
Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 442, doi. 10.1111/cge.14106
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- Publication type:
- Article
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 265, doi. 10.1111/cge.14084
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- Publication type:
- Article
Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 713, doi. 10.1111/cge.13929
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- Publication type:
- Article
COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 402, doi. 10.1111/cge.13816
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- Publication type:
- Article
The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 296, doi. 10.1111/cge.13656
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- Publication type:
- Article
Ordering genetic testing by neurologists: points to consider.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 8, p. 3714, doi. 10.1007/s00415-023-11758-3
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- Publication type:
- Article
Traumatic Brain Injury, Boredom and Depression.
- Published in:
- Behavioral Sciences (2076-328X), 2013, v. 3, n. 3, p. 434, doi. 10.3390/bs3030434
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- Publication type:
- Article
Neurofibromatosis type 1--an update and review for the primary pediatrician.
- Published in:
- Clinical Pediatrics, 1996, v. 35, n. 11, p. 545, doi. 10.1177/000992289603501101
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- Publication type:
- Article
Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer.
- Published in:
- International Journal of Cancer, 2017, v. 140, n. 9, p. 2145, doi. 10.1002/ijc.30616
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- Publication type:
- Article
Comprehensive analysis of constitutional mismatch repair deficiency‐associated non‐Hodgkin lymphomas in a global cohort.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 12, p. 1, doi. 10.1002/pbc.31302
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- Publication type:
- Article
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors.
- Published in:
- Familial Cancer, 2021, v. 20, n. 3, p. 189, doi. 10.1007/s10689-020-00216-y
- By:
- Publication type:
- Article
Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel.
- Published in:
- Familial Cancer, 2018, v. 17, n. 1, p. 79, doi. 10.1007/s10689-017-0009-7
- By:
- Publication type:
- Article
Recurrent TP53 missense mutation in cancer patients of Arab descent.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 295, doi. 10.1007/s10689-016-9951-z
- By:
- Publication type:
- Article
Lynch Syndrome in high risk Ashkenazi Jews in Israel.
- Published in:
- Familial Cancer, 2014, v. 13, n. 1, p. 65, doi. 10.1007/s10689-013-9675-2
- By:
- Publication type:
- Article
Two BRCA1/2 founder mutations in Jews of Sephardic origin.
- Published in:
- Familial Cancer, 2011, v. 10, n. 1, p. 59, doi. 10.1007/s10689-010-9395-9
- By:
- Publication type:
- Article
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.
- Published in:
- Familial Cancer, 2010, v. 9, n. 2, p. 141, doi. 10.1007/s10689-009-9298-9
- By:
- Publication type:
- Article
Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.
- Published in:
- Familial Cancer, 2009, v. 8, n. 3, p. 187, doi. 10.1007/s10689-008-9227-3
- By:
- Publication type:
- Article
Mutation spectrum in HNPCC in the Israeli population.
- Published in:
- Familial Cancer, 2008, v. 7, n. 4, p. 309, doi. 10.1007/s10689-008-9191-y
- By:
- Publication type:
- Article
Vici syndrome in Israel: Clinical and molecular insights.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.991721
- By:
- Publication type:
- Article
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 6, p. 725, doi. 10.1002/pd.6077
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- Publication type:
- Article
Congenital pulmonary myofibroblastic tumor--pathology and prenatal sonographic appearance.
- Published in:
- 2005
- By:
- Publication type:
- Case Study
Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 592, doi. 10.1002/humu.24189
- By:
- Publication type:
- Article