OpenURL Connection Search

Select item for more details and to access through your institution.

THE USEFULNESS OF ARRAY COMPARATIVE GENOMIC HYBRIDIZATION IN CLINICAL DIAGNOSTICS OF INTELLECTUAL DISABILITY IN CHILDREN.
Published in:
Developmental Period Medicine, 2014, v. 18, n. 3, p. 307
By:
- Bartnik, Magdalena;
- Wiśniowiecka-Kowalnik, Barbara;
- Nowakowska, Beata;
- Smyk, Marta;
- Kędzior, Marta;
- Sobecka, Katarzyna;
- Kutkowska-Kaźmierczak, Anna;
- Klapecki, Jakub;
- Szczałuba, Krzysztof;
- Castaneda, Jennifer;
- Własienko, Paweł;
- Bezniakow, Natalia;
- Obersztyn, Ewa;
- Bocian, Ewa
Publication type:
Article
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2310, doi. 10.1002/ajmg.a.36646
By:
- Gos, Monika;
- Fahiminiya, Somayyeh;
- Poznański, Jarosław;
- Klapecki, Jakub;
- Obersztyn, Ewa;
- Piotrowicz, Małgorzata;
- Wierzba, Jolanta;
- Posmyk, Renata;
- Bal, Jerzy;
- Majewski, Jacek
Publication type:
Article
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.
Published in:
Genes, 2021, v. 12, n. 8, p. 1257, doi. 10.3390/genes12081257
By:
- Kutkowska-Kaźmierczak, Anna;
- Boczar, Maria;
- Kalka, Ewa;
- Castañeda, Jennifer;
- Klapecki, Jakub;
- Pietrzyk, Aleksandra;
- Barczyk, Artur;
- Malinowska, Olga;
- Landowska, Aleksandra;
- Gambin, Tomasz;
- Kowalczyk, Katarzyna;
- Wiśniowiecka-Kowalnik, Barbara;
- Smyk, Marta;
- Dawidziuk, Mateusz;
- Niepokój, Katarzyna;
- Paczkowska, Magdalena;
- Szyld, Paweł;
- Lipska-Ziętkiewicz, Beata;
- Szczałuba, Krzysztof;
- Kostyk, Ewa
Publication type:
Article

Found: 3

THE USEFULNESS OF ARRAY COMPARATIVE GENOMIC HYBRIDIZATION IN CLINICAL DIAGNOSTICS OF INTELLECTUAL DISABILITY IN CHILDREN.

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity.

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.