Found: 111
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Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development.
- Published in:
- Movement Disorders, 2007, v. 22, n. 2, p. 226, doi. 10.1002/mds.21277
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- Publication type:
- Article
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families.
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- Genome Biology, 2011, v. 12, n. 9, p. 2, doi. 10.1186/gb-2011-12-9-r89
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- Publication type:
- Article
Congenital Mirror Movements Associated With Brain Malformations.
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- Journal of Child Neurology, 2021, v. 36, n. 7, p. 545, doi. 10.1177/0883073820984068
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- Publication type:
- Article
Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum.
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- Journal of Child Neurology, 2019, v. 34, n. 9, p. 506, doi. 10.1177/0883073819842970
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- Publication type:
- Article
Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population.
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- Journal of Genetic Counseling, 2012, v. 21, n. 4, p. 557, doi. 10.1007/s10897-011-9422-5
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- Publication type:
- Article
Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders.
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- Reproductive Biology & Endocrinology, 2003, v. 1, p. 110, doi. 10.1186/1477-7827-1-110
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- Publication type:
- Article
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 243, doi. 10.1007/s10048-020-00611-8
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- Publication type:
- Article
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
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- Neurogenetics, 2017, v. 18, n. 3, p. 141, doi. 10.1007/s10048-017-0516-6
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- Publication type:
- Article
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
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- Neurogenetics, 2014, v. 15, n. 2, p. 107, doi. 10.1007/s10048-014-0392-2
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- Publication type:
- Article
Erratum to: Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in the TUBB4A gene.
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- 2014
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- Publication type:
- Erratum
Reply to: The many faces of TUBB4A mutations.
- Published in:
- 2014
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- Publication type:
- Letter
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 73, doi. 10.1007/s10048-012-0314-0
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- Publication type:
- Article
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca<sup>2+</sup>-Dependent Cyclic GMP Synthesis.
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- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00348
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- Publication type:
- Article
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.
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- 2018
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- Publication type:
- letter
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
- Published in:
- 2017
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- Publication type:
- journal article
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 8, p. 1066, doi. 10.1002/pd.6359
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- Publication type:
- Article
Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors.
- Published in:
- 2020
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- Publication type:
- journal article
Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 4, p. 360, doi. 10.1002/pd.2694
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- Publication type:
- Article
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
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- Acta Neuropathologica, 2012, v. 124, n. 4, p. 575, doi. 10.1007/s00401-012-1007-3
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- Publication type:
- Article
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
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- 2003
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- Publication type:
- journal article
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 623, doi. 10.1002/acn3.198
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- Publication type:
- Article
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 287, doi. 10.1038/ejhg.2010.213
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- Publication type:
- Article
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 226, doi. 10.1038/sj.ejhg.5200791
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- Publication type:
- Article
The Effect of Mineralocorticoid Receptor Antagonists on Recruitment and Function of Endothelial Progenitor Cells in Patients with Congestive Heart Failure.
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- Israel Medical Association Journal, 2018, v. 20, n. 4, p. 233
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- Publication type:
- Article
Thrombogenicity and endothelial progenitor cells function during Acute myocardial infarction - comparison of Prasugrel versus Ticagrelor.
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- Journal of Thrombosis & Thrombolysis, 2023, v. 55, n. 3, p. 407, doi. 10.1007/s11239-022-02759-6
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- Publication type:
- Article
Agenesis of the corpus callosum. An autopsy study in fetuses.
- Published in:
- 2016
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- Publication type:
- journal article
Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.
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- 2018
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- Publication type:
- journal article
Familial Brain Periventricular Pseudocysts.
- Published in:
- 2017
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- Publication type:
- journal article
The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.
- Published in:
- 2016
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- Publication type:
- journal article
Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction.
- Published in:
- Fetal Diagnosis & Therapy, 2011, v. 30, n. 4, p. 309, doi. 10.1159/000330121
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- Publication type:
- Article
Imaging of Fetal Cytomegalovirus Infection.
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- Fetal Diagnosis & Therapy, 2011, v. 29, n. 2, p. 117, doi. 10.1159/000321346
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- Publication type:
- Article
Imaging of fetal cytomegalovirus infection.
- Published in:
- 2011
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- Publication type:
- journal article
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
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- Clinical Genetics, 2024, v. 105, n. 6, p. 671, doi. 10.1111/cge.14502
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- Publication type:
- Article
Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly.
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- Frontiers in Neuroscience, 2024, p. 01, doi. 10.3389/fnins.2024.1347506
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- Publication type:
- Article
The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism.
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- Journal of Neuroscience, 2015, v. 35, n. 3, p. 936, doi. 10.1523/JNEUROSCI.1998-14.2015
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- Publication type:
- Article
Costeff syndrome: clinical features and natural history.
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- Journal of Neurology, 2014, v. 261, n. 12, p. 2275, doi. 10.1007/s00415-014-7481-x
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- Publication type:
- Article
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
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- Journal of Neurology, 2012, v. 259, n. 12, p. 2590, doi. 10.1007/s00415-012-6545-z
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- Publication type:
- Article
The Effect of Tafamidis on Circulating Endothelial Progenitor Cells in Patients with Transthyretin Cardiac Amyloidosis.
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- Cardiovascular Drugs & Therapy, 2022, v. 36, n. 3, p. 489, doi. 10.1007/s10557-021-07265-0
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- Publication type:
- Article
Impact of Calcium Channel Blockers on Aspirin Reactivity in Patients with Coronary Artery Disease.
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- Cardiovascular Drugs & Therapy, 2022, v. 36, n. 3, p. 467, doi. 10.1007/s10557-021-07295-8
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- Publication type:
- Article
The Effect of Proprotein Convertase Subtilisin Kexin Type 9 Inhibitors on Circulating Endothelial Progenitor Cells in Patients with Cardiovascular Disease.
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- Cardiovascular Drugs & Therapy, 2022, v. 36, n. 1, p. 85, doi. 10.1007/s10557-020-07119-1
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- Publication type:
- Article
The fetal cerebellum. Pitfalls in diagnosis and management.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 4, p. 372, doi. 10.1002/pd.2196
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- Publication type:
- Article
Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy.
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- Prenatal Diagnosis, 2004, v. 24, n. 4, p. 260, doi. 10.1002/pd.849
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- Publication type:
- Article
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
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- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 31, doi. 10.1002/pd.516
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- Publication type:
- Article
Simultaneous Noninvasive Detection and Therapy of Atherosclerosis Using HDL Coated Gold Nanorods.
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- Diagnostics (2075-4418), 2022, v. 12, n. 3, p. 577, doi. 10.3390/diagnostics12030577
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- Publication type:
- Article
Hyperlipidemic mice as a model for a real‐time in vivo detection of atherosclerosis by gold nanorods‐based diffusion reflection technique.
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- Journal of Biophotonics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1002/jbio.201800218
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- Publication type:
- Article
Pathways Mediating the Interaction between Endothelial Progenitor Cells (EPCs) and Platelets.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0095156
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- Publication type:
- Article
Unilateral Gynecomastia in an Adolescent with Poland Syndrome: A Clue for Diagnosis.
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- Israel Medical Association Journal, 2023, v. 25, n. 7, p. 505
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- Publication type:
- Article
Microarray findings in pregnancies with oligohydramnios – a retrospective cohort study and literature review.
- Published in:
- Journal of Perinatal Medicine, 2020, v. 48, n. 1, p. 53, doi. 10.1515/jpm-2019-0228
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- Publication type:
- Article
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.
- Published in:
- 2019
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- Publication type:
- journal article