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1.
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.
J Assist Reprod Genet
; 39(2): 357-367, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35079943
2.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Am J Hum Genet
; 95(2): 173-82, 2014 Aug 07.
Article
in English
| MEDLINE | ID: mdl-25087610
3.
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
4.
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
5.
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
6.
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.
Article
in English
| MEDLINE | ID: mdl-22825934
7.
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Genes (Basel)
; 13(4)2022 04 14.
Article
in English
| MEDLINE | ID: mdl-35456496
8.
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Hum Mol Genet
; 18(19): 3579-93, 2009 Oct 01.
Article
in English
| MEDLINE | ID: mdl-19578123
9.
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Genes (Basel)
; 12(12)2021 12 19.
Article
in English
| MEDLINE | ID: mdl-34946970
10.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Genes (Basel)
; 12(8)2021 08 17.
Article
in English
| MEDLINE | ID: mdl-34440431
11.
Detection of clinically relevant exonic copy-number changes by array CGH.
Hum Mutat
; 31(12): 1326-42, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20848651
12.
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Am J Med Genet B Neuropsychiatr Genet
; 153B(5): 983-93, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20162629
13.
Genetics and epigenetics of autism spectrum disorder-current evidence in the field.
J Appl Genet
; 60(1): 37-47, 2019 Feb.
Article
in English
| MEDLINE | ID: mdl-30627967
14.
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
Am J Med Genet A
; 146A(19): 2449-54, 2008 Oct 01.
Article
in English
| MEDLINE | ID: mdl-18792974
15.
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Eur J Hum Genet
; 23(11): 1473-81, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25944381
16.
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
J Appl Genet
; 55(1): 125-44, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24297458
17.
[Genetic bases of autism spectrum disorders]. / Genetyczne Uwarunkowania Zaburzen Autystycznych.
Med Wieku Rozwoj
; 17(3): 207-23, 2013.
Article
in Polish
| MEDLINE | ID: mdl-24296445
18.
Multiple samples aCGH analysis for rare CNVs detection.
J Clin Bioinforma
; 3(1): 12, 2013 Jun 11.
Article
in English
| MEDLINE | ID: mdl-23758813
19.
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Eur J Hum Genet
; 21(6): 620-5, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23032108
20.
Assessment of the role of copy-number variants in 150 patients with congenital heart defects.
Med Wieku Rozwoj
; 16(3): 175-82, 2012.
Article
in English
| MEDLINE | ID: mdl-23378395
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