A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families
Al-Hamed, Mohamed H, Al-Sabban, Essam, Al-Mojalli, Hamad, Al-Harbi, Naffaa, Faqeih, Eissa, Al Shaya, Hammad, Alhasan, Khalid, Al-Hissi, Safaa, Rajab, Mohamed, Edwards, Noel, Al-Abbad, Abbas, Al-Hassoun, Ibrahim, Sayer, John A, Meyer, Brian F
Published in Journal of human genetics (01.07.2013)
Published in Journal of human genetics (01.07.2013)
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Type IV Collagen Mutations in Familial IgA Nephropathy
Li, Yifu, Groopman, Emily E., D’Agati, Vivette, Prakash, Sindhuri, Zhang, Junying, Mizerska-Wasiak, Malgorzata, Caliskan, Yasar, Fasel, David, Karnib, Hussein H., Bono, Luisa, Omran, Sadek Al, Sabban, Essam Al, Kiryluk, Krzysztof, Caridi, Gianluca, Ghiggeri, Gian Marco, Sanna-Cherchi, Simone, Scolari, Francesco, Gharavi, Ali G.
Published in Kidney international reports (01.07.2020)
Published in Kidney international reports (01.07.2020)
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The morbid genome of ciliopathies: an update
Shamseldin, Hanan E, Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K, Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M, Alfaifi, Abdullah Y, Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H, Al-Muhaizea, Mohammad A, Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A, Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K, Nowilaty, Sawsan R, Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M, Alzaidan, Hamad, Rahbeeni, Zuhair, Al-Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
Bondue, Tjessa, Kouraich, Anas, Berlingerio, Sante Princiero, Veys, Koenraad, Marie, Sandrine, Alsaad, Khaled O, Al-Sabban, Essam, Levtchenko, Elena, van den Heuvel, Lambertus
Published in International journal of molecular sciences (09.01.2023)
Published in International journal of molecular sciences (09.01.2023)
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The morbid genome of ciliopathies: an update
Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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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)
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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)
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Hyperglycemia and Hypoinsulinemia in Patients with Fanconi-Bickel Syndrome
Taha, Doris, Al-Harbi, Naffaa, Al-Sabban, Essam
Published in Journal of pediatric endocrinology & metabolism : JPEM (22.10.2020)
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Published in Journal of pediatric endocrinology & metabolism : JPEM (22.10.2020)
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Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant
Machuca, Eduardo, Hummel, Aurélie, Nevo, Fabien, Dantal, Jacques, Martinez, Frank, Al-Sabban, Essam, Baudouin, Véronique, Abel, Laurent, Grünfeld, Jean-Pierre, Antignac, Corinne
Published in Kidney international (01.04.2009)
Published in Kidney international (01.04.2009)
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Continuous kidney replacement therapy outcomes in infants and newborns
Sebeih, Yousef, Al-Turki, Abdullah, Alfattani, Areej, Al-Shareef, Turki, Saadeh, Sermin, Al-Sabban, Essam, Aldhaferi, Rezqah, AlHusseini, Noara, Alanzi, Fawaz, AlMaiman, Weiam
Published in International journal of pediatrics & adolescent medicine (01.09.2023)
Published in International journal of pediatrics & adolescent medicine (01.09.2023)
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Coexistent Linear Scleroderma and Juvenile Systemic Lupus Erythematosus
Majeed, Mahmoud, Al‐Mayouf, Sulaiman M., Al‐Sabban, Essam, Bahabri, Sultan
Published in Pediatric dermatology (01.11.2000)
Published in Pediatric dermatology (01.11.2000)
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The morbid genome of ciliopathies: an update
Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Mohammed Alghamdi, Jameel, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al-Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al-Owain, Mohammed, Sogaty, Sameera, Zain Seidahmed, Mohammed, Alkuraya, Fowzan S.
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
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Journal Article
Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg$^{2+}$ Resorption
Simon, David B., Lu, Yin, Choate, Keith A., Velazquez, Heino, Al-Sabban, Essam, Praga, Manuel, Casari, Giorgio, Bettinelli, Alberto, Colussi, Giacomo, Rodriguez-Soriano, Juan, McCredie, David, Milford, David, Sanjad, Sami, Lifton, Richard P.
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)
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Journal Article
Hyperglycemia and Hypoinsulinemia in Patients with Fanconi-Bickel Syndrome
Taha, Doris, Al-Harbi, Naffaa, Al-Sabban, Essam
Published in Journal of Pediatric Endocrinology & Metabolism (01.06.2008)
Published in Journal of Pediatric Endocrinology & Metabolism (01.06.2008)
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Journal Article
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
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Journal Article
The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
Bondue, Tjessa, Kouraich, Anas, Berlingerio, Sante Princiero, Veys, Koenraad, Marie, Sandrine, Alsaad, Khaled O, Al-Sabban, Essam, Levtchenko, Elena, van den Heuvel, Lambertus
Published in International journal of molecular sciences (09.01.2023)
Published in International journal of molecular sciences (09.01.2023)
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Coxiella burnetii endocarditis in a child
al-Hajjar, S, Hussain Qadri, S M, al-Sabban, E, Jäger, C
Published in The Pediatric infectious disease journal (01.09.1997)
Published in The Pediatric infectious disease journal (01.09.1997)
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