Search details
1.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37717890
2.
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Int J Mol Sci
; 23(2)2022 Jan 08.
Article
in English
| MEDLINE | ID: mdl-35054877
3.
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
J Med Genet
; 55(6): 408-414, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29496980
4.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29300384
5.
[The genetics of obesity - pathogenetic, clinical and diagnostic aspects].
Dev Period Med
; 21(3): 186-202, 2017.
Article
in Polish
| MEDLINE | ID: mdl-29077558
6.
A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.
Dev Period Med
; 21(2): 91-94, 2017.
Article
in English
| MEDLINE | ID: mdl-28796977
7.
Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.
Adv Exp Med Biol
; 912: 1-9, 2016.
Article
in English
| MEDLINE | ID: mdl-26987320
8.
[17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome]. / Duplikacja 17p13.3 jako przyczyna opóznionego rozwoju psychoruchowego u niemowlecia - opis kolejnego przypadku nowego zespolu.
Pol Merkur Lekarski
; 40(238): 255-9, 2016 Apr.
Article
in Polish
| MEDLINE | ID: mdl-27137828
9.
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Am J Hum Genet
; 89(2): 295-301, 2011 Aug 12.
Article
in English
| MEDLINE | ID: mdl-21802062
10.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
; 50(5): 309-23, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23456818
11.
The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
Dev Period Med
; 18(3): 307-17, 2014.
Article
in English
| MEDLINE | ID: mdl-25182394
12.
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.
Genes (Basel)
; 15(1)2024 01 19.
Article
in English
| MEDLINE | ID: mdl-38275606
13.
Hypogonadism - when does genetic diagnosis help in therapy?
Ginekol Pol
; 2023 Oct 23.
Article
in English
| MEDLINE | ID: mdl-37861224
14.
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Genes (Basel)
; 14(5)2023 04 25.
Article
in English
| MEDLINE | ID: mdl-37239332
15.
Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.
Genes (Basel)
; 14(3)2023 02 23.
Article
in English
| MEDLINE | ID: mdl-36980834
16.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Genes (Basel)
; 14(3)2023 03 09.
Article
in English
| MEDLINE | ID: mdl-36980952
17.
The COL7A1 mutation database.
Hum Mutat
; 33(2): 327-31, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22058051
18.
Novel and recurrent COL7A1 mutation in a Polish population.
Eur J Dermatol
; 22(1): 23-8, 2012.
Article
in English
| MEDLINE | ID: mdl-22266148
19.
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.
Am J Med Genet B Neuropsychiatr Genet
; 159B(2): 236-42, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22223473
20.
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Genes (Basel)
; 13(5)2022 04 21.
Article
in English
| MEDLINE | ID: mdl-35627109