Detalles de la búsqueda
1.
Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.
Fetal Diagn Ther
; 50(4): 269-275, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37393895
2.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Hum Mutat
; 43(12): 2063-2078, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36125428
3.
Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.
Postepy Dermatol Alergol
; 38(6): 1032-1038, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35126011
4.
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Muscle Nerve
; 59(1): 129-133, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30230566
5.
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
Am J Med Genet A
; 176(7): 1670-1674, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29799162
6.
[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]
Dev Period Med
; 22(1): 22-32, 2018.
Artículo
en Polaco
| MEDLINE | ID: mdl-29641418
7.
[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].
Dev Period Med
; 22(1): 14-21, 2018.
Artículo
en Polaco
| MEDLINE | ID: mdl-29641417
8.
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
Muscle Nerve
; 55(2): 277-281, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27348394
9.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
J Med Genet
; 52(6): 413-21, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25795793
10.
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
Am J Med Genet A
; 167(6): 1337-41, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25899773
11.
[Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis]. / Neurofibromina budowa i funkcje bialka w kontekscie patogenezy nerwiakowlókniakowatosci typu I.
Postepy Hig Med Dosw (Online)
; 69: 1331-48, 2015 Dec 09.
Artículo
en Polaco
| MEDLINE | ID: mdl-26671924
12.
Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.
Dev Period Med
; 19(4): 413-31, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26982749
13.
Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Dev Period Med
; 18(3): 297-306, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25182393
14.
The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
Dev Period Med
; 18(3): 285-96, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25182392
15.
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Neuromuscul Disord
; 34: 114-122, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38183850
16.
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.
Genes (Basel)
; 14(12)2023 Dec 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38136995
17.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Eur J Hum Genet
; 31(2): 202-215, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36434256
18.
[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome]. / Sciezka sygnalowa RAS/MAPK i jej rola w etiopatogenezie zespolu Noonan.
Postepy Biochem
; 58(3): 255-64, 2012.
Artículo
en Polaco
| MEDLINE | ID: mdl-23373411
19.
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Am J Med Genet B Neuropsychiatr Genet
; 159B(7): 760-71, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22825934
20.
Newborn screening and gene therapy in SMA: Challenges related to vaccinations.
Front Neurol
; 13: 890860, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36504644