Association between distress and knowledge among parents of autistic children
Yusuf, Afiqah, Peltekova, Iskra, Savion-Lemieux, Tal, Frei, Jennifer, Bruno, Ruth, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W, Elsabbagh, Mayada
Published in PloS one (26.09.2019)
Published in PloS one (26.09.2019)
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Journal Article
Membrane surface charge dictates the structure and function of the epithelial Na+/H+ exchanger
Alexander, Robert Todd, Jaumouillé, Valentin, Yeung, Tony, Furuya, Wendy, Peltekova, Iskra, Boucher, Annie, Zasloff, Michael, Orlowski, John, Grinstein, Sergio
Published in The EMBO journal (16.02.2011)
Published in The EMBO journal (16.02.2011)
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Journal Article
Microdeletion on 3p25 in a patient with features of 3p deletion syndrome
Peltekova, Iskra T., Macdonald, Athen, Armour, Christine M.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Journal Article
Allelic heterogeneity and abnormal vesicle recycling in PLAA -related neurodevelopmental disorders
Iacomino, Michele, Houerbi, Nadia, Fortuna, Sara, Howe, Jennifer, Li, Shan, Scorrano, Giovanna, Riva, Antonella, Cheng, Kai-Wen, Steiman, Mandy, Peltekova, Iskra, Yusuf, Afiqah, Baldassari, Simona, Tamburro, Serena, Scudieri, Paolo, Musante, Ilaria, Di Ludovico, Armando, Guerrisi, Sara, Balagura, Ganna, Corsello, Antonio, Efthymiou, Stephanie, Murphy, David, Uva, Paolo, Verrotti, Alberto, Fiorillo, Chiara, Delvecchio, Maurizio, Accogli, Andrea, Elsabbagh, Mayada, Houlden, Henry, Scherer, Stephen W, Striano, Pasquale, Zara, Federico, Chou, Tsui-Fen, Salpietro, Vincenzo
Published in Frontiers in molecular neuroscience (08.04.2024)
Published in Frontiers in molecular neuroscience (08.04.2024)
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Journal Article
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys
Peltekova, Iskra T., Hurteau-Millar, Julie, Armour, Christine M.
Published in American journal of medical genetics. Part A (01.12.2014)
Published in American journal of medical genetics. Part A (01.12.2014)
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Journal Article
Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
Peltekova, Iskra, Buhas, Daniela, Stern, Lara, Kirby, Emily, Yusuf, Afiqah, Elsabbagh, Mayada
Published in Journal of personalized medicine (30.07.2021)
Published in Journal of personalized medicine (30.07.2021)
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Journal Article
P531: Developing the patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing value of genetic testing from patients’ perspectives in multiple clinical contexts
Poole, Elise, Luca, Stephanie, Assamad, Daniel, Xiao, Bowen, Yan, Joyce, Banglorewala, Pooja, Xia, Cheryl, Ungar, Wendy, Abbott, Lesleigh, Armstrong, Linlea, Birch, Patricia, Boycott, Kym, Carroll, June, Chad, Lauren, Chitayat, David, Denburg, Avram, Deyell, Rebecca, Elliott, Alison, Goudie, Catherine, Laberge, Anne-Marie, Maio, Melissa, Peltekova, Iskra, Quinlan, Becky, Sawyer, Sarah, Silver, Rachel, Smith, Maureen, Teitelbaum, Ronni, Villani, Anita, Wainstein, Tasha, Hayeems, Robin
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing
Peltekova, Iskra, Yusuf, Afiqah, Frei, Jennifer, Savion‐Lemieux, Tal, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada
Published in Molecular genetics & genomic medicine (01.11.2021)
Published in Molecular genetics & genomic medicine (01.11.2021)
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Journal Article
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds
Faiyaz-Ul-Haque, Muhammad, Al-Sayed, Moeenaldeen D, Faqeih, Eissa, Jamil, Masood, Saeed, Anjum, Amoudi, Mohamed Saleh, Kaya, Namik, Abalkhail, Halah, Al-Abdullatif, Ahmed, Rashed, Mohamed, Al-Owain, Mohammed, Peltekova, Iskra, Zaidi, Syed H E
Published in Annals of Saudi medicine (01.03.2014)
Published in Annals of Saudi medicine (01.03.2014)
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Journal Article
Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning
Yusuf, Afiqah, Peltekova, Iskra, Savion-Lemieux, Tal, Frei, Jennifer, Bruno, Ruth, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada
Published in Research in developmental disabilities (01.05.2020)
Published in Research in developmental disabilities (01.05.2020)
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Journal Article
Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions
Yusuf, Afiqah, Peltekova, Iskra, Savion‐Lemieux, Tal, Frei, Jennifer, Joober, Ridha, Howe, Jennifer, Scherer, Stephen W., Elsabbagh, Mayada
Published in Journal of genetic counseling (01.02.2021)
Published in Journal of genetic counseling (01.02.2021)
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Journal Article
Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients
Faiyaz-Ul-Haque, Muhammad, Al-Dayel, Fouad, Tulba, Asma, Abalkhail, Halah, Alhussaini, Hussa, Memon, Muhammad, Bazarbashi, Shouki, Amin, Tarek, Satti, Mohamed B, Peltekova, Iskra, Nawaz, Zafar, Zaidi, Syed HE
Published in Asian Pacific journal of cancer prevention : APJCP (26.10.2018)
Published in Asian Pacific journal of cancer prevention : APJCP (26.10.2018)
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Journal Article
Membrane surface charge dictates the structure and function of the epithelial Na + /H + exchanger: NHE3 is regulated by membrane surface charge
Alexander, Robert Todd, Jaumouillé, Valentin, Yeung, Tony, Furuya, Wendy, Peltekova, Iskra, Boucher, Annie, Zasloff, Michael, Orlowski, John, Grinstein, Sergio
Published in The EMBO journal (16.02.2011)
Published in The EMBO journal (16.02.2011)
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Journal Article
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency
Faiyaz-Ul-Haque, Muhammad, Al-Owain, Mohammed, Al-Dayel, Fouad, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Al-Sayed, Moeen, Balobaid, Ameera, Cluntun, Ahmad, Toulimat, Mohamed, Abalkhail, Hala, Peltekova, Iskra, Zaidi, Syed H. E.
Published in European journal of pediatrics (01.12.2009)
Published in European journal of pediatrics (01.12.2009)
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Journal Article
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations
Faiyaz-Ul-Haque, Muhammad, Al-Jefri, Abdullah, Al-Dayel, Fouad, Bhuiyan, Jalaluddin A. K. M., Abalkhail, Hala A., Al-Nounou, Randa, Al-Abdullatif, Ahmed, Pulicat, Monogaran S., Gaafar, Ameera, Alaiya, Ayodele A., Peltekova, Iskra, Zaidi, Syed H. E.
Published in European journal of pediatrics (01.06.2010)
Published in European journal of pediatrics (01.06.2010)
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Journal Article
Novel and Recurrent Mutations in the C1NH Gene of Arab Patients Affected with Hereditary Angioedema
Faiyaz-Ul-Haque, Muhammad, Al-Gazlan, Sulaiman, Abalkhail, Halah A., Al-Abdulatif, Ahmad, Toulimat, Mohamed, Peltekova, Iskra, Khaliq, Agha M.R., Al-Dayel, Fouad, Zaidi, Syed H.E.
Published in International archives of allergy and immunology (01.01.2010)
Published in International archives of allergy and immunology (01.01.2010)
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Journal Article
Novel FBPI gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency
FAIYAZ-UL-HAQUE, Muhammad, AL-OWAIN, Mohammed, ABALKHAIL, Hala, PELTEKOVA, Iskra, ZAIDI, Syed H. E, AL-DAYEL, Fouad, AL-HASSNAN, Zuhair, AL-ZAIDAN, Hamad, RAHBEENI, Zuhair, AL-SAYED, Moeen, BALOBAID, Ameera, CLUNTUN, Ahmad, TOULIMAT, Mohamed
Published in European journal of pediatrics (2009)
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Published in European journal of pediatrics (2009)
Journal Article