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Author/Creator Kroes, Hester Y.

2. Healthcare recommendations for Joubert syndrome. Issue 1 (11th November 2019)

Authors:
Bachmann‐Gagescu, Ruxandra; Dempsey, Jennifer C.; Bulgheroni, Sara; Chen, Maida L.; D'Arrigo, Stefano; Glass, Ian A.; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y.; Mack, Stephen H.; Nuovo, Sara; Parisi, Melissa A.; Snow, Joseph; Summers, Angela...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
229
Record Type:
Journal Article
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3. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

Authors:
Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2259
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

Authors:
Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2259
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry. Issue 4 (25th August 2021)

Authors:
Runhart, Esmee H.; Dhooge, Patty; Meester‐Smoor, Magda; Pas, Jeroen; Pott, Jan Willem R.; van Leeuwen, Redmer; Kroes, Hester Y.; Bergen, Arthur A.; de Jong‐Hesse, Yvonne; Thiadens, Alberta A.; van Schooneveld, Mary J.; van Genderen, Maria; Boon, Camiel; Klaver, Caroline; van den Born, L. Ingeborg...
Journal:
Acta ophthalmologica
Issue:
Volume 100:Issue 4(2022)
Page Start:
395
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Issue 4 (1st March 2021)

Authors:
Franken, Gijs A. C.; Müller, Dominik; Mignot, Cyril; Keren, Boris; Lévy, Jonathan; Tabet, Anne‐Claude; Germanaud, David; Tejada, María‐Isabel; Kroes, Hester Y.; Nievelstein, Rutger A. J.; Brimble, Elise; Ruzhnikov, Maria; Claverie‐Martin, Felix; Szczepańska, Maria; Ćuk, Martin; Latta, Femke; Konr...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
473
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗