Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Frequency of thrombophilia associated genes variants: population-based study.
BMC Med Genet
; 21(1): 198, 2020 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33036569
3.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266967
4.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
J Med Genet
; 56(2): 104-112, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352868
5.
Association between polymorphisms of a folate - homocysteine - methionine - SAM metabolising enzyme gene and multiple sclerosis in a Polish population.
Neurol Neurochir Pol
; 53(3): 194-198, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145465
6.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Hum Mutat
; 38(1): 7-15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667302
7.
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Am J Hum Genet
; 93(6): 1001-14, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239381
8.
Expression of the energy substrate transporters in uterine fibroids.
Prostaglandins Other Lipid Mediat
; 123: 9-15, 2016 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26932421
9.
The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.
Am J Med Genet A
; 164A(4): 1056-61, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24459047
10.
Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers.
Nutrients
; 16(9)2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732616
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434256
12.
New case of Primrose syndrome with mild intellectual disability.
Am J Med Genet A
; 155A(11): 2838-40, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910247
13.
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 â pter.
Am J Med Genet A
; 155A(8): 1833-47, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21744486
14.
The natural history of Möbius syndrome in a 32-year-old man.
Neurol Neurochir Pol
; 45(1): 74-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21384297
15.
Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population.
Front Neurol
; 12: 631134, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889124
16.
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel)
; 12(12)2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946966
17.
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Neurogenetics
; 11(3): 357-66, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232219
18.
Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area.
J Clin Med
; 10(1)2020 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33374421
19.
Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population.
J Immunol Res
; 2020: 8838014, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33224992
20.
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Orphanet J Rare Dis
; 15(1): 36, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32007091