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The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins.
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- Genes, 2024, v. 15, n. 8, p. 997, doi. 10.3390/genes15080997
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- Publication type:
- Article
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
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- Genes, Chromosomes & Cancer, 2021, v. 60, n. 2, p. 79, doi. 10.1002/gcc.22914
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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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- Article
Migraine and Stroke: What's the Link? What to Do?
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- Current Neurology & Neuroscience Reports, 2017, v. 17, n. 3, p. 1, doi. 10.1007/s11910-017-0729-y
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- Publication type:
- Article
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6601, doi. 10.3390/ijms24076601
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- Article
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome.
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- Genes, 2024, v. 15, n. 2, p. 256, doi. 10.3390/genes15020256
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
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- 2022
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- Publication type:
- Case Study
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
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- 2022
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- Publication type:
- Case Study
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.
- Published in:
- 2022
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- Publication type:
- Case Study
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
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- Genes, 2021, v. 12, n. 9, p. 1392, doi. 10.3390/genes12091392
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- Publication type:
- Article
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.
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- Genes, 2021, v. 12, n. 7, p. 1078, doi. 10.3390/genes12071078
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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
Kabuki Syndrome—Clinical Review with Molecular Aspects.
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- Genes, 2021, v. 12, n. 4, p. 468, doi. 10.3390/genes12040468
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- Publication type:
- Article
The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes.
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- Genes, 2021, v. 12, n. 3, p. 350, doi. 10.3390/genes12030350
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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
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.
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- Frontiers in Genetics, 2021, v. 14, p. N.PAG, doi. 10.3389/fgene.2021.620752
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- Publication type:
- Article
Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation.
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- Neuropsychiatric Disease & Treatment, 2020, v. 16, p. 457, doi. 10.2147/NDT.S236034
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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
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.
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- Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506
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- Publication type:
- Article
Somatic Mosaicism in Esophageal Atresia.
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- American Journal of Gastroenterology (Springer Nature), 2014, v. 109, n. 12, p. 1954, doi. 10.1038/ajg.2014.346
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- Publication type:
- 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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- Publication type:
- 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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- 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
Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1402531
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- Publication type:
- 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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- 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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- Article
The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.
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- 2008
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- Publication type:
- journal 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
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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- Publication type:
- Article
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1102, doi. 10.1002/ajmg.a.33895
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- Publication type:
- Article
Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue.
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- Journal of Laryngology & Otology, 2004, v. 118, n. 9, p. 676
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- Publication type:
- Article
Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx.
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- Molecular Carcinogenesis, 2004, v. 39, n. 3, p. 147, doi. 10.1002/mc.20007
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Nowa forma wsparcia dla pacjentów nieuleczalnie chorych, ich opiekunów oraz personelu medycznego - pilotażowy program działania poradni oraz centrum tanatologicznego.
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- Palliative Medicine / Medycyna Paliatywna, 2017, v. 9, n. 3, p. 164
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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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- 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
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
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- Publication type:
- 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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- Publication type:
- Article
ZESPÓŁ PITTA I HOPKINSA -- DOŚWIADCZENIA WŁASNE NA PODSTAWIE OPISU 2 PRZYPADKÓW I PRZEGLĄD LITERATURY ZE SZCZEGÓLNYM UWZGLĘDNIENIEM DIAGNOSTYKI RÓŻNICOWEJ.
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- Developmental Period Medicine, 2014, v. 18, n. 2, p. 169
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article