Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype
Huther, Alexander; Sherman, Caroline L.; Sumaroka, Alexander; O'Neil, Erin C.; Roman, Alejandro J.; Kim, Rebecca; Weber, Mariejel L.; Garafalo, Alexandra V.; Cideciyan, Artur V.; Aleman, Tomas S..png)
Share.png)
Save Phenotype-integrated reinterpretation of laboratory-reported ABCA4 gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophyWang, Dorothy T.; Antonio-Aguirre, Bani; Pan, Annabelle; Ruggeri, Maria Ludovica; Mehta, Setu P.; Smith, Christy H.; Guthrie, Kelsey S.; Applegate, Carolyn; Doyle, Jefferson J.; Singh, Mandeep S. Share Save Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal contextEl-Dessouky, Sara H.; Sharaf-Eldin, Wessam E.; Aboulghar, Mona M.; Aref, Haissam; Senousy, Sameh M.; Maher, Mohamed A.; Harms, Frederike L.; Matsa, Lova S.; Ezz Elarab, Ahmed; Ateya, Mohamed I.; Mobarak, Mostafa H.; Zolfokar, Dalia S.; Abdelmohsen, Asmaa E.; Abdel-Aziz, Nahla N.; Issa, Mahmoud Y.; Ahmed, Adel H.; Soliman, Samar H.; Elmakkawy, Gehad A.; Elhady, Ghada M.; Eid, Maha M.; Zaki, Maha S.; Schorderet, Daniel; Kutsche, Kerstin; Abdalla, Ebtesam M. Share Save 
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
