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THE MED13L HAPLOINSUFFICIENCY SYNDROME ASSOCIATED WITH DE NOVO NONSENSE VARIANT (P.GLN1981*).
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 3, p. 32, doi. 10.34763/jmotherandchild.20202403.2021.d-20-00003
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- Publication type:
- Article
Epigenetic mechanisms of gene expression regulation in neurological diseases.
- Published in:
- Acta Neurobiologiae Experimentalis, 2013, v. 73, n. 1, p. 19, doi. 10.55782/ane-2013-1919
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- Publication type:
- Article
Destabilization of mutated human PUS3 protein causes intellectual disability.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2063, doi. 10.1002/humu.24471
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- Publication type:
- Article
Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.
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- Fetal Diagnosis & Therapy, 2023, v. 50, n. 4, p. 269, doi. 10.1159/000531677
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- Publication type:
- Article
Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2173, doi. 10.3390/genes14122173
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- Publication type:
- Article
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 5, p. 914, doi. 10.3390/jcm10050914
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- Publication type:
- Article
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
- Published in:
- 2019
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- Publication type:
- journal article
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
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- 2017
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- Publication type:
- journal article
Application of Array Comparative Genomic Hybridization in 102 Patients With Epilepsy and Additional Neurodevelopmental Disorders.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 7, p. 760, doi. 10.1002/ajmg.b.32081
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- Publication type:
- Article
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.
- Published in:
- Frontiers in Genetics, 2021, v. 14, p. N.PAG, doi. 10.3389/fgene.2021.620752
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- Publication type:
- Article
Newborn screening and gene therapy in SMA: Challenges related to vaccinations.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.890860
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- Publication type:
- Article
Towards a Better Molecular Diagnosis of FMR1-Related Disorders--A Multiyear Experience from a Reference Lab.
- Published in:
- Genes, 2016, v. 7, n. 9, p. 59, doi. 10.3390/genes7090059
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- Publication type:
- Article
Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8×60K).
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-015-0212-x
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- Publication type:
- Article
ZESPÓŁ ŁAMLIWEGO CHROMOSOMU X I CHOROBY FMR1-ZALEŻNE - POSTĘPOWANIE DIAGNOSTYCZNE NA PODSTAWIE DOŚWIADCZEŃ WŁASNYCH.
- Published in:
- Developmental Period Medicine, 2018, v. 22, n. 1, p. 22
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- Publication type:
- Article
ZESPÓŁ ŁAMLIWEGO CHROMOSOMU X I CHOROBY FMR1-ZALEŻNE - OBJAWY KLINICZNE, EPIDEMIOLOGIA I PODŁOŻE MOLEKULARNE CHOROBY.
- Published in:
- Developmental Period Medicine, 2018, v. 22, n. 1, p. 14
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- Publication type:
- Article
GENETIC ANALYSIS IN INHERITED METABOLIC DISORDERS - FROM DIAGNOSIS TO TREATMENT. OWN EXPERIENCE, CURRENT STATE OF KNOWLEDGE AND PERSPECTIVES.
- Published in:
- Developmental Period Medicine, 2015, v. 19, n. 4, p. 413
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- Publication type:
- Article
NEUROFIBROMIN IN NEUROFIBROMATOSIS TYPE 1 -- MUTATIONS IN NF1 GENE AS A CAUSE OF DISEASE.
- Published in:
- Developmental Period Medicine, 2014, v. 18, n. 3, p. 297
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- Publication type:
- Article
THE RASOPATHIES AS AN EXAMPLE OF RAS/MAPK PATHWAY DISTURBANCES -- CLINICAL PRESENTATION AND MOLECULAR PATHOGENESIS OF SELECTED SYNDROMES.
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- Developmental Period Medicine, 2014, v. 18, n. 3, p. 285
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- Publication type:
- Article
GENETYCZNIE UWARUNKOWANE CHOROBY SKÓRY - PRZEGLĄD WYBRANYCH GENODERMATOZ.
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- Developmental Period Medicine, 2012, v. 16, n. 3, p. 183
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- Publication type:
- Article
MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1670, doi. 10.1002/ajmg.a.38837
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- Publication type:
- Article
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1337, doi. 10.1002/ajmg.a.36969
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- Publication type:
- Article
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2310, doi. 10.1002/ajmg.a.36646
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- Publication type:
- Article
Recommendations of the Polish Sarcoma Group on diagnostic-therapeutic procedures and control in patients with type 1 neurofibromatosis (NF1) and the associated malignant neoplasm of peripheral nerve sheaths.
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- Nowotwory, 2022, v. 72, n. 2, p. 106, doi. 10.5603/NJO.2022.0018
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- Publication type:
- Article
Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.
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- Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2021, v. 38, n. 6, p. 1032, doi. 10.5114/ada.2020.98564
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- Publication type:
- Article
Neurofibromina – budowa i funkcje białka w kontekście patogenezy nerwiakowłókniakowatości typu I.
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- Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2015, v. 69, p. 1331, doi. 10.5604/17322693.1185213
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- Publication type:
- Article
Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal.
- Published in:
- BMC Genomics, 2009, v. 10, p. 261, doi. 10.1186/1471-2164-10-261
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- Publication type:
- Article