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Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
- By:
- Publication type:
- Article
Atypical Skin Manifestations in FGFR2 - Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 3, p. 149, doi. 10.1159/000488439
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- Publication type:
- Article
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 240, doi. 10.1007/s10897-018-0298-5
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- Publication type:
- Article
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.
- Published in:
- 2016
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- Publication type:
- Letter
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.
- Published in:
- Neural Plasticity, 2017, p. 1, doi. 10.1155/2017/6509493
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- Publication type:
- Article
Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study.
- Published in:
- 2017
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- Publication type:
- journal article
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 949, doi. 10.1007/s00439-023-02569-7
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- Publication type:
- Article
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
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- Cerebellum, 2019, v. 18, n. 1, p. 137, doi. 10.1007/s12311-018-0969-7
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- Publication type:
- Article
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
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- Australasian Journal of Dermatology, 2006, v. 47, n. 4, p. 274, doi. 10.1111/j.1440-0960.2006.00294.x
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- Publication type:
- Article
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32056
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- Publication type:
- Article
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 231, doi. 10.1002/ajmg.c.31989
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- Publication type:
- Article
Genomic approaches for studying craniofacial disorders.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 4, p. 218, doi. 10.1002/ajmg.c.31379
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- Publication type:
- Article
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00841-x
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- Publication type:
- Article
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1935, doi. 10.1002/ajmg.a.63203
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- Publication type:
- Article
CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1780, doi. 10.1002/ajmg.a.61601
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- Publication type:
- Article
Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2152, doi. 10.1002/ajmg.a.61295
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- Publication type:
- Article
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1585, doi. 10.1002/ajmg.a.61200
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- Publication type:
- Article
Schaaf‐Yang syndrome overview: Report of 78 individuals.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2564, doi. 10.1002/ajmg.a.40650
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- Publication type:
- Article
KBG syndrome: An Australian experience.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121
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- Publication type:
- Article
Muenke syndrome: An international multicenter natural history study.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 918, doi. 10.1002/ajmg.a.37528
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- Publication type:
- Article
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 553, doi. 10.1002/ajmg.a.35202
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- Publication type:
- Article
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1360, doi. 10.1038/ng.2463
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- Publication type:
- Article
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
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- Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
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- Publication type:
- Article
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 620, doi. 10.1038/ng1780
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- Publication type:
- Article
Krogh's principle for a new era.
- Published in:
- 2003
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- Publication type:
- Editorial
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 379, doi. 10.1038/ng1221
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- Publication type:
- Article
The Healthcare and Societal Costs of Familial Intellectual Disability.
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- International Journal of Environmental Research & Public Health, 2024, v. 21, n. 3, p. 299, doi. 10.3390/ijerph21030299
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- Publication type:
- Article
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 1, p. 27, doi. 10.1002/bdra.23596
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- Publication type:
- Article
Prioritising the application of genomic medicine.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0037-0
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- Publication type:
- Article
PHENOTYPIC VARIABILITY IN MABRY SYNDROME: EVIDENCE FOR GENETIC HETEROGENEITY.
- Published in:
- Bulletin du Girso, 2012, v. 51, n. 1, p. e31
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- Publication type:
- Article
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.
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- European Journal of Endocrinology, 2017, v. 176, n. 5, p. 635, doi. 10.1530/EJE-16-0944
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- Publication type:
- Article
The role of exome sequencing in childhood interstitial or diffuse lung disease.
- Published in:
- 2022
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- Publication type:
- journal article
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7199, doi. 10.1038/ncomms8199
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- Publication type:
- Article
Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.
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- Journal of Clinical Immunology, 2015, v. 35, n. 7, p. 604, doi. 10.1007/s10875-015-0194-9
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- Publication type:
- Article
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 5, p. 895, doi. 10.1002/ana.26477
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- Publication type:
- Article
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 261, doi. 10.1007/s10545-016-0010-6
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- Publication type:
- Article
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021
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- Publication type:
- Article
Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk.
- Published in:
- Familial Cancer, 2019, v. 18, n. 2, p. 147, doi. 10.1007/s10689-018-0104-4
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- Publication type:
- Article
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 7, p. 533, doi. 10.1002/gcc.20661
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- Publication type:
- Article
BCAS3‐Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 870, doi. 10.1002/mds.28915
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- Publication type:
- Article
Analysis of Intracranial Volume in Apert Syndrome Genotypes.
- Published in:
- Pediatric Neurosurgery, 2004, v. 40, n. 4, p. 161, doi. 10.1159/000081933
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- Publication type:
- Article
Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 233, doi. 10.1002/ajmg.a.33776
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- Publication type:
- Article
Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1
- Published in:
- FEBS Letters, 2012, v. 586, n. 10, p. 1516, doi. 10.1016/j.febslet.2012.04.010
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- Publication type:
- Article
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1678, doi. 10.1002/pd.6471
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- Publication type:
- Article
The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.
- Published in:
- 2007
- By:
- Publication type:
- journal article
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1844, doi. 10.1002/humu.24444
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- Publication type:
- Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
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- Publication type:
- Article
Cover, Volume 41, Issue 10.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. i, doi. 10.1002/humu.24115
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- Publication type:
- Article
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1761, doi. 10.1002/humu.24079
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- Publication type:
- Article