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Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
- Published in:
- 2006
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- Publication type:
- Correction notice
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 267, doi. 10.1007/s00439-005-0021-0
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- Publication type:
- Article
A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).
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- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00535-4
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- Article
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
- Published in:
- 2021
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- Publication type:
- journal article
Null variants in AGRN cause lethal fetal akinesia deformation sequence.
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- Clinical Genetics, 2020, v. 97, n. 4, p. 634, doi. 10.1111/cge.13677
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- Article
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes--Challenges for the Accurate Diagnosis.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.931822
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- Article
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71
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- Article
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 620, doi. 10.1038/ejhg.2012.219
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- 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.
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- Genes, 2023, v. 14, n. 12, p. 2173, doi. 10.3390/genes14122173
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- Publication type:
- Article
Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.
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- Genes, 2023, v. 14, n. 3, p. 563, doi. 10.3390/genes14030563
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- Publication type:
- Article
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
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- Genes, 2022, v. 13, n. 5, p. 724, doi. 10.3390/genes13050724
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- Publication type:
- Article
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
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- Genes, 2021, v. 12, n. 4, p. 594, doi. 10.3390/genes12040594
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- Publication type:
- Article
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.
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- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 2, p. 357, doi. 10.1007/s10815-022-02400-8
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- Publication type:
- Article
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
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- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2188, doi. 10.1093/hmg/ddp151
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- Article
The mutational spectrum in Waardenburg syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2131
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- Article
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643
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- Publication type:
- Article
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
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- Molecular Syndromology, 2016, v. 6, n. 5, p. 210, doi. 10.1159/000441408
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- Publication type:
- Article
Towards a Better Molecular Diagnosis of FMR1-Related Disorders--A Multiyear Experience from a Reference Lab.
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- Genes, 2016, v. 7, n. 9, p. 59, doi. 10.3390/genes7090059
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- Publication type:
- Article
THE MUTATION RESPONSIBLE FOR TORSION DYSTONIA TYPE 1 SHOWS THE ABILITY TO STIMULATE INTRACELLULAR AGGREGATION OF MUTANT HUNTINGTIN.
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- Developmental Period Medicine, 2018, v. 22, n. 1, p. 33
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- Publication type:
- Article
GE NETYKA OTYŁOŚCI - PATOGENEZA, ASPEKTY KLINICZNE I DIAGNOSTYCZNE.
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- Developmental Period Medicine, 2017, v. 21, n. 3, p. 186
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- Publication type:
- Article
POLYDACTYLY AND OBESITY - THE CLINICAL MANIFESTATION OF CILIOPATHY: A BOY WITH BARDET-BIEDL SYNDROME.
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- Developmental Period Medicine, 2016, v. 20, n. 2, p. 105
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- Article
MALOCCLUSIONS AND CRANIOFACIAL ANOMALIES IN A CHILD WITH VELO-CARDIO-FACIAL SYNDROME.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 490
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- Publication type:
- Article
THE USEFULNESS OF ARRAY COMPARATIVE GENOMIC HYBRIDIZATION IN CLINICAL DIAGNOSTICS OF INTELLECTUAL DISABILITY IN CHILDREN.
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- Developmental Period Medicine, 2014, v. 18, n. 3, p. 307
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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
ZESPÓŁ MOEBIUSA Z ZABURZENIAMI TWARZOWO-ZĘBOWYMI. ZESPÓŁ RZADKO WYSTĘPUJĄCY, CZY RZADKO ROZPOZNAWANY?
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- Developmental Period Medicine, 2012, v. 16, n. 4, p. 273
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- Publication type:
- Article
ASSESSMENT OF THE ROLE OF COPY-NUMBER VARIANTS IN 150 PATIENTS WITH CONGENITAL HEART DEFECTS.
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- Developmental Period Medicine, 2012, v. 16, n. 3, p. 175
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- Publication type:
- Article
ZESPÓŁ TALASEMII A Z NIEPEŁNOSPRAWNOŚCIĄ INTELEKTUALNĄ (ATR-X) U DWÓCH BRACI -- CHARAKTERYSTYKA KLINICZNA, ZASADY DIAGNOSTYKI I PORADNICTWA GENETYCZNEGO.
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- Developmental Period Medicine, 2011, v. 15, n. 4, p. 437
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- Publication type:
- Article
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1195, doi. 10.1002/ajmg.a.62067
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- Publication type:
- Article
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2417, doi. 10.1002/ajmg.a.61785
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- 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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- Article
Expanding the phenotype associated with missense mutations of the ARX gene.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1813, doi. 10.1002/ajmg.a.36003
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- Publication type:
- Article
The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders.
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- BioMed Research International, 2014, v. 2014, p. 1
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- Publication type:
- Article