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1.
Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy.
Epilepsy Behav
; 150: 109535, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38118233
2.
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Clin Genet
; 101(2): 190-207, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34689324
3.
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.
Allergol Immunopathol (Madr)
; 50(4): 1-9, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35789397
4.
Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.
Epilepsy Behav
; 106: 107036, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32247176
5.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29300384
6.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-26443594
7.
Co-occurrence of Jalili syndrome and muscular overgrowth.
Am J Med Genet A
; 173(8): 2280-2283, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28586144
8.
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.
BMC Neurol
; 16: 35, 2016 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-26968164
9.
Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
Birth Defects Res A Clin Mol Teratol
; 103(6): 567-72, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25776145
10.
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
Birth Defects Res A Clin Mol Teratol
; 100(10): 764-71, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25196357
11.
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.
Front Genet
; 14: 1108852, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37347054
12.
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.
Epilepsy Res
; 190: 107101, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36758444
13.
Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.
Front Neurol
; 14: 1316933, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38328757
14.
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.
Eur J Hum Genet
; 31(9): 1040-1047, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407733
15.
Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients.
J Clin Med
; 11(3)2022 Jan 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-35160058
16.
Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.
Int J Environ Res Public Health
; 19(2)2022 01 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35055596
17.
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Mol Genet Genomic Med
; 10(4): e1899, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35255187
18.
Genetic syndromes with vascular malformations - update on molecular background and diagnostics.
Arch Med Sci
; 17(4): 965-991, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34336026
19.
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Genes (Basel)
; 12(7)2021 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-34201538
20.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
J Appl Genet
; 62(3): 477-485, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-33982229