Found: 31
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Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome.
- Published in:
- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01686-y
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- Publication type:
- Article
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0859-y
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- Publication type:
- Article
A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.
- Published in:
- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00741-6
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- Article
Overlapping Phenotype of Cardiomyopathy in a Patient with Double Mutation: A Case Report.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 1, p. 31, doi. 10.3390/cardiogenetics11010005
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- Article
A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism.
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- Acta Dermatovenerologica Croatica, 2020, v. 28, n. 2, p. 105
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- Publication type:
- Article
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0711-4
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- Publication type:
- Article
Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.
- Published in:
- Medicina (1010660X), 2024, v. 60, n. 2, p. 237, doi. 10.3390/medicina60020237
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- Publication type:
- Article
Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
- Published in:
- Medicina (1010660X), 2023, v. 59, n. 7, p. 1225, doi. 10.3390/medicina59071225
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- Publication type:
- Article
A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.
- Published in:
- Medicina (1010660X), 2023, v. 59, n. 6, p. 1156, doi. 10.3390/medicina59061156
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- Publication type:
- Article
Challenges in the Diagnosis of XY Differences of Sexual Development.
- Published in:
- 2022
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- Publication type:
- Case Study
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 11, p. 1526, doi. 10.3390/medicina58111526
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- Publication type:
- Article
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 3, p. 351, doi. 10.3390/medicina58030351
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- Publication type:
- Article
Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family.
- Published in:
- Medicina (1010660X), 2021, v. 57, n. 7, p. 1, doi. 10.3390/medicina57070721
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- Publication type:
- Article
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1006
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- Publication type:
- Article
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.878
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- Publication type:
- Article
Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study.
- Published in:
- 2021
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- Publication type:
- Case Study
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
- Published in:
- Genomics Insights, 2019, v. 12, p. 1, doi. 10.1177/1178631019839010
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- Publication type:
- Article
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
- Published in:
- Acta Medica Lituanica, 2016, v. 23, n. 2, p. 73
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- Publication type:
- Article
Establishing genetic diagnosis of intellectual disability in children: diagnostic yield of various genetic approaches.
- Published in:
- Acta Medica Lituanica, 2012, v. 19, n. 4, p. 409
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- Publication type:
- Article
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
- Published in:
- BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0354-9
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- Publication type:
- Article
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1275, doi. 10.1002/ajmg.a.62098
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- Publication type:
- Article
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 536, doi. 10.1002/ajmg.a.61453
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- Publication type:
- Article
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 781, doi. 10.1002/ajmg.a.37466
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- Publication type:
- Article
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1342, doi. 10.1002/ajmg.a.36999
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- Publication type:
- Article
A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1487, doi. 10.1002/ajmg.a.35911
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- Publication type:
- Article
Clinical and molecular characterization of a second case of 7p22.1 microduplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1200, doi. 10.1002/ajmg.a.35300
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- Publication type:
- Article
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2501, doi. 10.1002/ajmg.a.34179
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- Publication type:
- Article
A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 154, n. 1, p. 6, doi. 10.1159/000486947
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- Publication type:
- Article
A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 151, n. 1, p. 5, doi. 10.1159/000456695
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- Publication type:
- Article
Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion.
- Published in:
- Cytogenetic & Genome Research, 2014, v. 144, n. 2, p. 109, doi. 10.1159/000368863
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- Publication type:
- Article