Found: 82
Select item for more details and to access through your institution.
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03395-4
- By:
- 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
- By:
- Publication type:
- Article
The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.
- Published in:
- 2008
- By:
- Publication type:
- journal article
High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate.
- Published in:
- Neonatology (16617800), 2015, v. 107, n. 3, p. 173, doi. 10.1159/000368878
- By:
- Publication type:
- Article
PERINATALNA OPIEKA PALIATYWNA REALIZOWANA W ODDZIALE POŁOŻNICZYM I NEONATOLOGICZNYM WE WSPÓŁPRACY Z HOSPICJUM DLA DZIECI - DOŚWIADCZENIA WŁASNE.
- Published in:
- Developmental Period Medicine, 2019, v. 23, n. 4, p. 253
- By:
- Publication type:
- Article
NOVEL CYTOGENETIC AND MOLECULAR TECHNIQUES IN THE DIAGNOSIS OF CONGENITAL ANOMALIES IN NEWBORNS.
- Published in:
- Developmental Period Medicine, 2015, v. 19, n. 4, p. 432
- By:
- Publication type:
- Article
ZESPÓŁ PITTA I HOPKINSA -- DOŚWIADCZENIA WŁASNE NA PODSTAWIE OPISU 2 PRZYPADKÓW I PRZEGLĄD LITERATURY ZE SZCZEGÓLNYM UWZGLĘDNIENIEM DIAGNOSTYKI RÓŻNICOWEJ.
- Published in:
- Developmental Period Medicine, 2014, v. 18, n. 2, p. 169
- By:
- Publication type:
- Article
TRUDNOŚCI DIAGNOSTYCZNE W ZESPOLE SMITHA I MAGENISA (SMS ) NA PODSTAWIE WŁASNYCH DOŚWIADCZEŃ I DANYCH Z LITERATURY.
- Published in:
- Developmental Period Medicine, 2012, v. 16, n. 2, p. 138
- By:
- Publication type:
- Article
ZESPÓŁ FREEMANA-SHELDONA -- FENOTYP I PRZEBIEG CHOROBY NA PODSTAWIE ANALIZY DWÓCH PRZYPADKÓW POTWIERDZONYCH W BADANIU MOLEKULARNYM.
- Published in:
- Developmental Period Medicine, 2011, v. 15, n. 4, p. 451
- By:
- Publication type:
- Article
BADANIA PRZESIEWOWE TECHNIKA MULTIPLEX LIGATION - DEPENDENT PROBE AMPLIFICATION (MLPA) U DZIECI Z ZABURZENIEM ROZWOJU I NIEPEŁNOSPRAWNOŚCIA INTELEKTUALNA O NIEOKREŚLONEJ ETIOLOGII.
- Published in:
- Developmental Period Medicine, 2011, v. 15, n. 2, p. 132
- By:
- Publication type:
- Article
ZESPOŁY GENETYCZNE CHARAKTERYZUJACE SIĘ NADMIERNYM WZROSTEM — ASPEKTY KLINICZNE I PORADNICTWO GENETYCZNE.
- Published in:
- Przeglad Pediatryczny, 2008, v. 38, n. 2, p. 121
- By:
- Publication type:
- Article
Complex glycerol kinase deficiency - long-term follow-up of two patients.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2012, v. 18, n. 4, p. 153
- By:
- Publication type:
- Article
PostaĆ mozaikowa trisomii chromosomu 20 u pacjentki z zaburzeniami rozwojowymi - 10-letnia obserwacja.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2009, v. 15, n. 4, p. 266
- By:
- Publication type:
- Article
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6601, doi. 10.3390/ijms24076601
- By:
- Publication type:
- Article
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2220, doi. 10.3390/jcm9072220
- By:
- Publication type:
- Article
Clinical heterogeneity of polish patients with KAT6B–related disorder.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265
- By:
- Publication type:
- Article
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1899
- By:
- Publication type:
- Article
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1772
- By:
- Publication type:
- Article
Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1432
- By:
- Publication type:
- Article
Giant heart tumors in infants leading to sudden, unexpected death: Description of two cases.
- Published in:
- Pediatrics International, 2011, v. 53, n. 6, p. 1090, doi. 10.1111/j.1442-200X.2011.03368.x
- By:
- Publication type:
- Article
COQ8A -Ataxia as a Manifestation of Primary Coenzyme Q Deficiency.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 10, p. 955, doi. 10.3390/metabo12100955
- By:
- Publication type:
- Article
Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.742834
- By:
- Publication type:
- Article
SMC1A epilepsy syndrome: clinical data from a large international cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63577
- By:
- Publication type:
- Article
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1195, doi. 10.1002/ajmg.a.62067
- By:
- 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.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1670, doi. 10.1002/ajmg.a.38837
- By:
- Publication type:
- Article
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 72, doi. 10.1002/ajmg.a.37964
- By:
- Publication type:
- Article
Further Evidence for GRIN2B Mutation as the Cause of Severe Epileptic Encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3265, doi. 10.1002/ajmg.a.37887
- By:
- Publication type:
- Article
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 2, p. 79, doi. 10.1002/gcc.22914
- By:
- Publication type:
- Article
A pro-inflammatory phenotype is associated with behavioural traits in children with Prader–Willi syndrome.
- Published in:
- European Child & Adolescent Psychiatry, 2021, v. 30, n. 6, p. 899, doi. 10.1007/s00787-020-01568-7
- By:
- Publication type:
- Article
Lipoid proteinosis: different clinical features in two siblings.
- Published in:
- Dermatology Review / Przeglad Dermatologiczny, 2019, v. 106, n. 5, p. 538, doi. 10.5114/dr.2019.90002
- By:
- Publication type:
- Article
Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2021.758899
- By:
- Publication type:
- Article
Hypercalciuria in a Child with Acral Peeling Skin Syndrome: A Case Report.
- Published in:
- Acta Dermatovenerologica Croatica, 2015, v. 23, n. 1, p. 59
- By:
- Publication type:
- Article
Migraine and Stroke: What's the Link? What to Do?
- Published in:
- Current Neurology & Neuroscience Reports, 2017, v. 17, n. 3, p. 1, doi. 10.1007/s11910-017-0729-y
- By:
- Publication type:
- Article
Quality of Life in Children with Prader–Willi Syndrome and the Impact of the Disease on the Functioning of Families.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 23, p. 16330, doi. 10.3390/ijerph192316330
- By:
- Publication type:
- Article
Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 13, p. 8047, doi. 10.3390/ijerph19138047
- By:
- Publication type:
- Article
Diagnosis of Fetal Alcohol Spectrum Disorders (FASDs): Guidelines of Interdisciplinary Group of Polish Professionals.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 14, p. 7526, doi. 10.3390/ijerph18147526
- By:
- Publication type:
- Article
From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 9, p. 2605, doi. 10.3390/jcm13092605
- By:
- Publication type:
- Article
Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1769, doi. 10.3390/jcm12051769
- By:
- Publication type:
- Article
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
- Published in:
- Advances in Clinical & Experimental Medicine, 2021, v. 30, n. 6, p. 641, doi. 10.17219/acem/134166
- By:
- Publication type:
- Article
Skin conductance measurement for the assessment of analgosedation adequacy in infants treated with mechanical ventilation: A multicenter pilot study.
- Published in:
- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 9, p. 1117, doi. 10.17219/acem/126286
- By:
- Publication type:
- Article
Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic--ischemic encephalopathy treated with therapeutic hypothermia.
- Published in:
- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 8, p. 1011, doi. 10.17219/acem/124437
- By:
- Publication type:
- Article
Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population.
- Published in:
- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 2, p. 251, doi. 10.17219/acem/115078
- By:
- Publication type:
- Article
Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.
- Published in:
- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 1, p. 101, doi. 10.17219/acem/112609
- By:
- Publication type:
- Article
CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 2, p. 107, doi. 10.3390/brainsci10020107
- By:
- Publication type:
- Article
Translation and psychometric testing of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI).
- Published in:
- Annals of Agricultural & Environmental Medicine, 2021, v. 28, n. 1, p. 94, doi. 10.26444/aaem/116907
- By:
- Publication type:
- Article
Clinical presentation of Rett syndrome in relation to quality of life and family functioning.
- Published in:
- Journal of International Medical Research, 2021, v. 49, n. 4, p. 1, doi. 10.1177/03000605211007714
- By:
- Publication type:
- Article
Udział czynników genetycznych i środowiskowych w etiologii wrodzonego zarośnięcia przełyku i przetoki tchawiczo-przełykowej.
- Published in:
- Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2014, v. 68, p. 238
- By:
- Publication type:
- Article
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 2, p. 190, doi. 10.1111/cge.14428
- By:
- Publication type:
- Article