Hermansky–Pudlak syndrome: Mutation update
Huizing, Marjan, Malicdan, May C. V., Wang, Jennifer A., Pri‐Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O'Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency
Malicdan, May Christine V., Vilboux, Thierry, Ben‐Zeev, Bruria, Guo, Jennifer, Eliyahu, Aviva, Pode‐Shakked, Ben, Dori, Amir, Kakani, Sravan, Chandrasekharappa, Settara C., Ferreira, Carlos R., Shelestovich, Natalia, Marek‐Yagel, Dina, Pri‐Chen, Hadass, Blatt, Ilan, Niederhuber, John E., He, Langping, Toro, Camilo, Taylor, Robert W., Deeken, John, Yardeni, Tal, Wallace, Douglas C., Gahl, William A., Anikster, Yair
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Cannabinoid CB1 receptor overactivity contributes to the pathogenesis of idiopathic pulmonary fibrosis
Cinar, Resat, Gochuico, Bernadette R, Iyer, Malliga R, Jourdan, Tony, Yokoyama, Tadafumi, Park, Joshua K, Coffey, Nathan J, Pri-Chen, Hadass, Szanda, Gergő, Liu, Ziyi, Mackie, Ken, Gahl, William A, Kunos, George
Published in JCI insight (20.04.2017)
Published in JCI insight (20.04.2017)
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Five-Month Impact of Tozinameran (BNT162b2) Vaccine on Kidney Transplant and Dialysis Patients: Serology and Clinical Outcomes: PO0151
Elhalel, Michal Dranitzki, Tzukert, Keren, levi, Irit Mor yosef, Burstain, Ido, Chen, Hadass Pri, Oster, Yonatan, Wolf, Dana G., Ben-Dov, Iddo Z.
Published in Journal of the American Society of Nephrology (01.10.2021)
Published in Journal of the American Society of Nephrology (01.10.2021)
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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy
Barel, Ortal, Malicdan, May Christine V, Ben-Zeev, Bruria, Kandel, Judith, Pri-Chen, Hadass, Stephen, Joshi, Castro, Inês G, Metz, Jeremy, Atawa, Osama, Moshkovitz, Sharon, Ganelin, Esther, Barshack, Iris, Polak-Charcon, Sylvie, Nass, Dvora, Marek-Yagel, Dina, Amariglio, Ninette, Shalva, Nechama, Vilboux, Thierry, Ferreira, Carlos, Pode-Shakked, Ben, Heimer, Gali, Hoffmann, Chen, Yardeni, Tal, Nissenkorn, Andreea, Avivi, Camila, Eyal, Eran, Kol, Nitzan, Glick Saar, Efrat, Wallace, Douglas C, Gahl, William A, Rechavi, Gideon, Schrader, Michael, Eckmann, David M, Anikster, Yair
Published in Brain (London, England : 1878) (01.03.2017)
Published in Brain (London, England : 1878) (01.03.2017)
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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay, Shalem, Tzippora, Rechavi, Gideon, Malicdan, May Christine V, Weiss, Batia, Gahl, William A, Anikster, Yair
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
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Arginine depletion attenuates renal cystogenesis in tuberous sclerosis complex model
Amleh, Athar, Chen, Hadass Pri, Watad, Lana, Abramovich, Ifat, Agranovich, Bella, Gottlieb, Eyal, Ben-Dov, Iddo Z., Nechama, Morris, Volovelsky, Oded
Published in Cell reports. Medicine (20.06.2023)
Published in Cell reports. Medicine (20.06.2023)
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Fetal Urine Production Rate in Preterm Premature Rupture of Membranes Is Associated with Adverse Neonatal Outcome: A Pilot Study
Avitan, Tehila, Drukker, Lior, Pri-Chen, Hadass, Rabinowitz, Ron, Algur, Nurit, Schimmel, Michael S, Schreiber, Letizia, Bdolah-Abram, Tali, Samueloff, Arnon, Grisaru-Granovsky, Sorina
Published in Gynecologic and obstetric investigation (2018)
Published in Gynecologic and obstetric investigation (2018)
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