Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.
Published in Nature (London) (02.02.2012)
Published in Nature (London) (02.02.2012)
Get full text
Journal Article
Editorial: Hereditary and acquired disorders of calcium homeostasis
Sanjad, Sami A, Tfayli, Hala, Aoun, Bilal
Published in Frontiers in endocrinology (Lausanne) (29.12.2022)
Published in Frontiers in endocrinology (Lausanne) (29.12.2022)
Get full text
Journal Article
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Choi, Murim, Scholl, Ute I, Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R, Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Aysin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2009)
Get full text
Journal Article
Norovirus: a novel etiologic agent in hemolytic uremic syndrome in an infant
Abu Daher, Ghadi, Aoun, Bilal, Jaafar, Fatima, Khafaja, Sarah, Sanjad, Sami
Published in BMC nephrology (05.07.2019)
Published in BMC nephrology (05.07.2019)
Get full text
Journal Article
Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome
Sanjad, Sami A, Aoun, Bilal, Yammine, Halim, Bassyouni, Amina, Karam, Pascale E
Published in Frontiers in endocrinology (Lausanne) (14.05.2018)
Published in Frontiers in endocrinology (Lausanne) (14.05.2018)
Get full text
Journal Article
Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients
Aoun, Bilal, Sanjad, Sami, Degheili, Jad A., Barhoumi, Abir, Bassyouni, Amina, Karam, Pascale E.
Published in Frontiers in pediatrics (11.09.2020)
Published in Frontiers in pediatrics (11.09.2020)
Get full text
Journal Article
Acute Kidney Injury Post-cardiac Surgery in Infants and Children: A Single-Center Experience in a Developing Country
Aoun, Bilal, Daher, Ghadi Abu, Daou, Karim N., Sanjad, Sami, Tamim, Hani, El Rassi, Issam, Arabi, Mariam, Sharara, Rana, Bitar, Fadi, Assy, Jana, Bulbul, Ziad, Degheili, Jad A., Majdalani, Marianne
Published in Frontiers in pediatrics (26.07.2021)
Published in Frontiers in pediatrics (26.07.2021)
Get full text
Journal Article
Web Resource
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption
SIMON, D. B, YIN LU, MCCREDIE, D, MILFORD, D, SANJAD, S, LIFTON, R. P, CHOATE, K. A, VELAZQUEZ, H, AL-SABBAN, E, PRAGA, M, CASARI, G, BETTINELLI, A, COLUSSI, G, RODRIGUEZ-SORIANO, J
Published in Science (American Association for the Advancement of Science) (02.07.1999)
Published in Science (American Association for the Advancement of Science) (02.07.1999)
Get full text
Journal Article
Distinctive vasculopathy with systemic involvement due to levamisole long-term therapy: a case report
Aoun, Bilal, Alali, Mohammad, Degheili, Jad A, Sanjad, Sami, Vaquin, Claudine, Donadieu, Jean, Ulinski, Tim, Termos, Salah
Published in Journal of medical case reports (16.07.2018)
Published in Journal of medical case reports (16.07.2018)
Get full text
Journal Article
Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III
Stone, Rosário, Bakkaloglu, Aysin, John, Eunice, Nayir, Ahmet, Trachtman, Howard, Alpay, Harika, Mansfield, Traci A, Simon, David B, Mendonca, Erica, Schurman, Scott, Sanjad, Sami A, Griswold, William, Nelson-Williams, Carol, Morales, Jose M, Brem, Andrew, Taylor, C. Mark, Lifton, Richard P, Richard, George A, Bindra, Ranjit S, Pilz, Daniela, Rodriguez-Soriano, Juan
Published in Nature genetics (01.10.1997)
Published in Nature genetics (01.10.1997)
Get full text
Journal Article
Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Karet, Fiona E, Smith, Annabel N, Skaug, Jennifer, Choate, Keith A, Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A, Sanjad, Sami A, Al-Sabban, Essam A, Lifton, Richard P, Scherer, Stephen W
Published in Nature genetics (01.09.2000)
Published in Nature genetics (01.09.2000)
Get full text
Journal Article
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
Lifton, Richard P, Karet, Fiona E, Finberg, Karin E, Nelson, Raoul D, Nayir, Ahmet, Mocan, Hilal, Sanjad, Sami A, Rodriguez-Soriano, Juan, Santos, Fernando, Cremers, Cor W.R.J, Pietro, Antonio Di, Hoffbrand, Barry I, Winiarski, Jacek, Bakkaloglu, Aysin, Ozen, Seza, Dusunsel, Ruhan, Goodyer, Paul, Hulton, Sally A, Wu, Doris K, Skvorak, Anne B, Morton, Cynthia C, Cunningham, Michael J, Jha, Vivekanand
Published in Nature genetics (01.01.1999)
Published in Nature genetics (01.01.1999)
Get full text
Journal Article
Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link?
Aoun, Bilal, Kotobi, Henri, Sanjad, Sami, Ulinski, Tim, Al-Kabbani, Majd, Termos, Salah, Chalard, Francois
Published in Case Reports in Nephrology (01.01.2017)
Published in Case Reports in Nephrology (01.01.2017)
Get full text
Journal Article
Response to steroids in early-onset nephrotic syndrome
Aoun, Bilal, Sanjad, Sami, Schmitt, Claus, Kalkas, Ghinwa, Fakhoury, Hassan, Ulinski, Tim
Published in Saudi journal of kidney diseases and transplantation (01.05.2013)
Published in Saudi journal of kidney diseases and transplantation (01.05.2013)
Get full text
Journal Article
Renal venous thrombosis in a newborn with prothrombotic risk factors
Muwakkit, Samar A, Saab, Raya, Sanjad, Sami A, Bhar, Saleh I, Ishak, Rim S, Samad, Zeina A, Chan, Anthony K, Abboud, Miguel R
Published in Blood coagulation & fibrinolysis (01.09.2009)
Published in Blood coagulation & fibrinolysis (01.09.2009)
Get more information
Journal Article