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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
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- Publication type:
- Article
High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate.
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- Neonatology (16617800), 2015, v. 107, n. 3, p. 173, doi. 10.1159/000368878
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- Article
PERINATALNA OPIEKA PALIATYWNA REALIZOWANA W ODDZIALE POŁOŻNICZYM I NEONATOLOGICZNYM WE WSPÓŁPRACY Z HOSPICJUM DLA DZIECI - DOŚWIADCZENIA WŁASNE.
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- Developmental Period Medicine, 2019, v. 23, n. 4, p. 253
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- Article
NOVEL CYTOGENETIC AND MOLECULAR TECHNIQUES IN THE DIAGNOSIS OF CONGENITAL ANOMALIES IN NEWBORNS.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 432
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- Article
TRUDNOŚCI DIAGNOSTYCZNE W ZESPOLE SMITHA I MAGENISA (SMS ) NA PODSTAWIE WŁASNYCH DOŚWIADCZEŃ I DANYCH Z LITERATURY.
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- Developmental Period Medicine, 2012, v. 16, n. 2, p. 138
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- Article
ZESPÓŁ FREEMANA-SHELDONA -- FENOTYP I PRZEBIEG CHOROBY NA PODSTAWIE ANALIZY DWÓCH PRZYPADKÓW POTWIERDZONYCH W BADANIU MOLEKULARNYM.
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- Developmental Period Medicine, 2011, v. 15, n. 4, p. 451
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- Article
BADANIA PRZESIEWOWE TECHNIKA MULTIPLEX LIGATION - DEPENDENT PROBE AMPLIFICATION (MLPA) U DZIECI Z ZABURZENIEM ROZWOJU I NIEPEŁNOSPRAWNOŚCIA INTELEKTUALNA O NIEOKREŚLONEJ ETIOLOGII.
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- Developmental Period Medicine, 2011, v. 15, n. 2, p. 132
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- Article
ZESPOŁY GENETYCZNE CHARAKTERYZUJACE SIĘ NADMIERNYM WZROSTEM — ASPEKTY KLINICZNE I PORADNICTWO GENETYCZNE.
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- Przeglad Pediatryczny, 2008, v. 38, n. 2, p. 121
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- Article
Complex glycerol kinase deficiency - long-term follow-up of two patients.
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- 2021
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- 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.
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- 2015
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- 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).
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- Pediatric Endocrinology, Diabetes & Metabolism, 2012, v. 18, n. 4, p. 153
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- Article
PostaĆ mozaikowa trisomii chromosomu 20 u pacjentki z zaburzeniami rozwojowymi - 10-letnia obserwacja.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2009, v. 15, n. 4, p. 266
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- Article
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
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- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2220, doi. 10.3390/jcm9072220
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- Publication type:
- Article
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1899
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- Article
COQ8A -Ataxia as a Manifestation of Primary Coenzyme Q Deficiency.
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- Metabolites (2218-1989), 2022, v. 12, n. 10, p. 955, doi. 10.3390/metabo12100955
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- Article
Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency.
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- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.742834
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- Article
SMC1A epilepsy syndrome: clinical data from a large international cohort.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63577
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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
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 72, doi. 10.1002/ajmg.a.37964
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- Publication type:
- Article
A pro-inflammatory phenotype is associated with behavioural traits in children with Prader–Willi syndrome.
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- European Child & Adolescent Psychiatry, 2021, v. 30, n. 6, p. 899, doi. 10.1007/s00787-020-01568-7
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- Publication type:
- Article
Lipoid proteinosis: different clinical features in two siblings.
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- Dermatology Review / Przeglad Dermatologiczny, 2019, v. 106, n. 5, p. 538, doi. 10.5114/dr.2019.90002
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- Article
Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2021.758899
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- Article
Hypercalciuria in a Child with Acral Peeling Skin Syndrome: A Case Report.
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- Acta Dermatovenerologica Croatica, 2015, v. 23, n. 1, p. 59
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- Article
Quality of Life in Children with Prader–Willi Syndrome and the Impact of the Disease on the Functioning of Families.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 23, p. 16330, doi. 10.3390/ijerph192316330
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- 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.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 13, p. 8047, doi. 10.3390/ijerph19138047
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- Article
Diagnosis of Fetal Alcohol Spectrum Disorders (FASDs): Guidelines of Interdisciplinary Group of Polish Professionals.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 14, p. 7526, doi. 10.3390/ijerph18147526
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- Article
From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning.
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- Journal of Clinical Medicine, 2024, v. 13, n. 9, p. 2605, doi. 10.3390/jcm13092605
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- Publication type:
- Article
Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.
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- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1769, doi. 10.3390/jcm12051769
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- Article
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
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- Advances in Clinical & Experimental Medicine, 2021, v. 30, n. 6, p. 641, doi. 10.17219/acem/134166
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- Article
Skin conductance measurement for the assessment of analgosedation adequacy in infants treated with mechanical ventilation: A multicenter pilot study.
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- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 9, p. 1117, doi. 10.17219/acem/126286
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- 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.
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- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 8, p. 1011, doi. 10.17219/acem/124437
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- Article
Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population.
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- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 2, p. 251, doi. 10.17219/acem/115078
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- Article
Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.
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- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 1, p. 101, doi. 10.17219/acem/112609
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- Article
CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 2, p. 107, doi. 10.3390/brainsci10020107
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- Article
Translation and psychometric testing of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI).
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- Annals of Agricultural & Environmental Medicine, 2021, v. 28, n. 1, p. 94, doi. 10.26444/aaem/116907
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- Article
Clinical presentation of Rett syndrome in relation to quality of life and family functioning.
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- Journal of International Medical Research, 2021, v. 49, n. 4, p. 1, doi. 10.1177/03000605211007714
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- Article
Udział czynników genetycznych i środowiskowych w etiologii wrodzonego zarośnięcia przełyku i przetoki tchawiczo-przełykowej.
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- Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2014, v. 68, p. 238
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- Publication type:
- Article
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 190, doi. 10.1111/cge.14428
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- Publication type:
- Article
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 468, doi. 10.1111/cge.13822
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- Publication type:
- Article
Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03292-w
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- Publication type:
- Article
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.
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- Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 2, p. 189, doi. 10.1007/s10815-015-0622-z
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- Publication type:
- Article
Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene -- Case Report.
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- Journal of Neurological & Neurosurgical Nursing / Pielęgniarstwo Neurologiczne i Neurochirurgiczne, 2019, v. 8, n. 2, p. 78, doi. 10.15225/PNN.2019.8.2.5
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- Publication type:
- Article
Early Therapeutic Intervention in a Child with Beckwith-Wiedemann Syndrome in Inpatient and Outpatient Conditions -- Case Report.
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- Journal of Neurological & Neurosurgical Nursing / Pielęgniarstwo Neurologiczne i Neurochirurgiczne, 2019, v. 8, n. 1, p. 23, doi. 10.15225/PNN.2019.8.1.4
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- Publication type:
- Article
Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation.
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- Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051084
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- Publication type:
- Article
CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts.
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- Polish Journal of Pediatrics / Pediatria Polska, 2021, v. 96, n. 2, p. 148, doi. 10.5114/POLP.2021.107401
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- Publication type:
- Article
The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 997, doi. 10.3390/genes15080997
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- Article
Epigenetic Findings in Twins with Esophageal Atresia.
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- Genes, 2023, v. 14, n. 9, p. 1822, doi. 10.3390/genes14091822
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- Article
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
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- Genes, 2023, v. 14, n. 5, p. 972, doi. 10.3390/genes14050972
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- Article
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1392, doi. 10.3390/genes12091392
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- Article
Kabuki Syndrome—Clinical Review with Molecular Aspects.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 468, doi. 10.3390/genes12040468
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- Publication type:
- Article