Detalles de la búsqueda
1.
Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level.
Cells;
13(8)2024 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38667321
2.
Identification of an NF1 Microdeletion with Optical Genome Mapping.
Int J Mol Sci;
24(17)2023 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37686382
3.
A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging.
Diagnostics (Basel);
13(14)2023 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-37510112
4.
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
Clin Epigenetics;
15(1): 35, 2023 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36859312
5.
Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics.
Bioengineering (Basel);
9(12)2022 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36550951
6.
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort.
Mol Cytogenet;
15(1): 47, 2022 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36320065
7.
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.
Mol Cytogenet;
15(1): 19, 2022 May 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35562807
8.
Clinical aspects of 22q11.2 microdeletion syndrome / A 22q11.2-microdeletiós szindróma klinikai jellemzoi.
Orv Hetil;
163(1): 21-30, 2022 01 02.
Artículo
en Húngaro
| MEDLINE | ID: mdl-34974426
9.
Analysis of Fuel Alternative Products Obtained by the Pyrolysis of Diverse Types of Plastic Materials Isolated from a Dumpsite Origin in Pakistan.
Polymers (Basel);
15(1)2022 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36616375
10.
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.
Mol Syndromol;
12(5): 300-304, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34602957
11.
Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement.
J Genet;
1002021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34553698
12.
Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.
BMC Pediatr;
21(1): 331, 2021 07 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34325699
13.
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.
Front Genet;
12: 673025, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34168676
14.
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Orphanet J Rare Dis;
16(1): 42, 2021 01 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33482836
15.
Evaluation of Organic Wastes as Substrates for Rearing Zophobas morio, Tenebrio molitor, and Acheta domesticus Larvae as Alternative Feed Supplements.
Insects;
11(9)2020 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32899592
16.
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
J Mol Med (Berl);
98(10): 1447-1455, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32839827
17.
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Eur J Med Genet;
63(10): 104027, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32758661
18.
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.
Clin Epigenetics;
12(1): 63, 2020 05 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32393365
19.
What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature.
BMC Pediatr;
20(1): 17, 2020 01 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-31931754
20.
Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family.
Horm Res Paediatr;
92(5): 335-339, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31661700