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Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
Published in:
2020
By:
- Männistö, Jonna M E;
- Maria, Maleeha;
- Raivo, Joose;
- Kuulasmaa, Teemu;
- Otonkoski, Timo;
- Huopio, Hanna;
- Laakso, Markku
Publication type:
journal article
Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study.
Published in:
Metabolites (2218-1989), 2022, v. 12, n. 5, p. 437, doi. 10.3390/metabo12050437
By:
- Ravi, Rowmika;
- Fernandes Silva, Lilian;
- Vangipurapu, Jagadish;
- Maria, Maleeha;
- Raivo, Joose;
- Helisalmi, Seppo;
- Laakso, Markku
Publication type:
Article
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Published in:
Scientific Reports, 2016, p. 34764, doi. 10.1038/srep34764
By:
- Maria, Maleeha;
- Lamers, Ideke J. C.;
- Schmidts, Miriam;
- Ajmal, Muhammad;
- Jaffar, Sulman;
- Ullah, Ehsan;
- Mustafa, Bilal;
- Ahmad, Shakeel;
- Nazmutdinova, Katia;
- Hoskins, Bethan;
- van Wijk, Erwin;
- Koster-Kamphuis, Linda;
- Khan, Muhammad Imran;
- Beales, Phil L.;
- Cremers, Frans P. M.;
- Roepman, Ronald;
- Azam, Maleeha;
- Arts, Heleen H.;
- Qamar, Raheel
Publication type:
Article
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119806
By:
- Maria, Maleeha;
- Ajmal, Muhammad;
- Azam, Maleeha;
- Waheed, Nadia Khalida;
- Siddiqui, Sorath Noorani;
- Mustafa, Bilal;
- Ayub, Humaira;
- Ali, Liaqat;
- Ahmad, Shakeel;
- Micheal, Shazia;
- Hussain, Alamdar;
- Shah, Syed Tahir Abbas;
- Ali, Syeda Hafiza Benish;
- Ahmed, Waqas;
- Khan, Yar Muhammad;
- den Hollander, Anneke I.;
- Haer-Wigman, Lonneke;
- Collin, Rob W. J.;
- Khan, Muhammad Imran;
- Qamar, Raheel
Publication type:
Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 150, doi. 10.1002/humu.22467
By:
- Mackay, Donna S.;
- Borman, Arundhati Dev;
- Sui, Ruifang;
- Born, L. Ingeborgh;
- Berson, Eliot L.;
- Ocaka, Louise A.;
- Davidson, Alice E.;
- Heckenlively, John R.;
- Branham, Kari;
- Ren, Huanan;
- Lopez, Irma;
- Maria, Maleeha;
- Azam, Maleeha;
- Henkes, Arjen;
- Blokland, Ellen;
- Andreasson, [Sten;
- Baere, Elfride;
- Bennett, Jean;
- Chader, Gerald J.;
- Berger, Wolfgang
Publication type:
Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
Published in:
Human Mutation, 2013, v. 34, n. 11, p. 1537, doi. 10.1002/humu.22398
By:
- Mackay, Donna S.;
- Borman, Arundhati Dev;
- Sui, Ruifang;
- Born, L. Ingeborgh;
- Berson, Eliot L.;
- Ocaka, Louise A.;
- Davidson, Alice E.;
- Heckenlively, John R.;
- Branham, Kari;
- Ren, Huanan;
- Lopez, Irma;
- Maria, Maleeha;
- Azam, Maleeha;
- Henkes, Arjen;
- Blokland, Ellen;
- Andreasson, Sten;
- Baere, Elfride;
- Bennett, Jean;
- Chader, Gerald J.;
- Berger, Wolfgang
Publication type:
Article
The Power of Single-Cell RNA Sequencing in eQTL Discovery.
Published in:
Genes, 2022, v. 13, n. 3, p. 502, doi. 10.3390/genes13030502
By:
- Maria, Maleeha;
- Pouyanfar, Negar;
- Örd, Tiit;
- Kaikkonen, Minna U.
Publication type:
Article

Found: 7

Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.

Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study.

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.

The Power of Single-Cell RNA Sequencing in eQTL Discovery.