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A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 2, p. 270, doi. 10.1002/mdc3.12401
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- Publication type:
- Article
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies.
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- Molecular Syndromology, 2022, v. 13, n. 4, p. 282, doi. 10.1159/000519326
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- Publication type:
- Article
Late onset asymptomatic pancreatic neuroendocrine tumor -- A case report on the phenotypic expansion for MEN1.
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- Hereditary Cancer in Clinical Practice, 2017, v. 15, p. 1, doi. 10.1186/s13053-017-0070-0
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- Article
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
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- 2019
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- Publication type:
- journal article
Sex Differences, Genetic and Environmental Influences on Dilated Cardiomyopathy.
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- Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2289, doi. 10.3390/jcm10112289
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- Article
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
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- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/3256539
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- Publication type:
- Article
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer.
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- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/6236714
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- Publication type:
- Article
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6780494
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- Publication type:
- Article
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6968395
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- Publication type:
- Article
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
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- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/7263780
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- Publication type:
- Article
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2192, doi. 10.1002/ajmg.a.62745
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- Publication type:
- Article
Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 539, doi. 10.1002/ajmg.a.61960
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- Publication type:
- Article
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 208, doi. 10.1002/ajmg.a.61913
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- Publication type:
- Article
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1764, doi. 10.1002/ajmg.a.61274
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- Publication type:
- Article
Expansion of the clinical spectrum associated with AARS2‐related disorders.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1556, doi. 10.1002/ajmg.a.61188
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- Publication type:
- Article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
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- Publication type:
- Article
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.
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- Case Reports in Medicine, 2020, p. 1, doi. 10.1155/2020/5108052
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- Publication type:
- Article
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.
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- Case Reports in Medicine, 2020, p. 1, doi. 10.1155/2020/5108052
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- Publication type:
- Article
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.
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- Case Reports in Medicine, 2020, p. 1, doi. 10.1155/2020/5108052
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- Publication type:
- Article
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
- Published in:
- 2017
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- Publication type:
- journal article
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.
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- Biomolecules (2218-273X), 2020, v. 10, n. 9, p. 1314, doi. 10.3390/biom10091314
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- Publication type:
- Article
Co‐occurrence of a novel <italic>PDGFRB</italic> variant and likely pathogenic variant in <italic>CASR</italic> in an individual with extensive intracranial calcifications and hypocalcaemia.
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- 2018
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- Publication type:
- Case Study
Expanded phenotype in a patient with spastic paraplegia 7.
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- Clinical Case Reports, 2017, v. 5, n. 10, p. 1620, doi. 10.1002/ccr3.1109
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- Publication type:
- Article
BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.
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- Clinical Case Reports, 2017, v. 5, n. 2, p. 104, doi. 10.1002/ccr3.793
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- Publication type:
- Article
The infantile neuroaxonal dystrophy rating scale (INAD-RS).
- Published in:
- 2020
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- Publication type:
- journal article
The natural history of infantile neuroaxonal dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.566
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- Publication type:
- Article
Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1229, doi. 10.1002/mgg3.454
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- Publication type:
- Article
Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 805, doi. 10.1002/mgg3.447
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- Publication type:
- Article
Cover.
- Published in:
- 2018
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- Publication type:
- Front Cover
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 666, doi. 10.1002/mgg3.401
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- Publication type:
- Article
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 781, doi. 10.1002/mgg3.322
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- Publication type:
- Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 295, doi. 10.1002/mgg3.280
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- Publication type:
- Article
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.
- Published in:
- 2017
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- Publication type:
- Case Study
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
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- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
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- Publication type:
- Article
Physician interpretation of variants of uncertain significance.
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- Familial Cancer, 2019, v. 18, n. 1, p. 121, doi. 10.1007/s10689-018-0086-2
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- Publication type:
- Article
The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations.
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- Familial Cancer, 2018, v. 17, n. 1, p. 167, doi. 10.1007/s10689-017-0007-9
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- Publication type:
- Article
Maple syrup urine disease: mechanisms and management.
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- Application of Clinical Genetics, 2017, v. 10, p. 57, doi. 10.2147/tacg.s125962
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- Publication type:
- Article
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
- Published in:
- 2021
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- Publication type:
- Journal Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
- Published in:
- BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
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- Publication type:
- Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
- Published in:
- BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
- By:
- Publication type:
- Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
- Published in:
- BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
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- Publication type:
- Article
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00413-z
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- Publication type:
- Article
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine.
- Published in:
- 2019
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- Publication type:
- journal article
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases.
- Published in:
- Human Heredity, 2021, v. 86, n. 1-4, p. 28, doi. 10.1159/000519356
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- Publication type:
- Article