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1Academic Journal
المؤلفون: Mohamed H. Al-Hamed, John A. Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali, Maha Tulbah, Faiqa Imtiaz
المصدر: Genes; Volume 13; Issue 10; Pages: 1687
مصطلحات موضوعية: CAKUT, renal agenesis, GFRA1, NPNT, prenatal exome
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13101687
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2Academic Journal
المؤلفون: Mohamed H. Al-Hamed, Nada Alsahan, Maha Tulbah, Wesam Kurdi, Wafa’a I. Ali, John A. Sayer, Faiqa Imtiaz
المصدر: Genes; Volume 11; Issue 9; Pages: 967
مصطلحات موضوعية: IDDCDF, TMEM94, pathogenic variant, prenatal exome, consanguinity
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11090967
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3
المؤلفون: Nada Derar, John A. Sayer, Khushnooda Ramzan, Gawaher Almutairi, Bashayer Saeed, Hanifa Bukhari, Nora Almuhana, Rubina Khan, Laila Alquayt, Maha Tulbah, Rafiullah Rafiullah, Maisoon Almugbel, Saja S Alamri, Dorota Monies, Faiqa Imtiaz, Asma Akilan, Abrar AlKhalifah, Mirna Assoum, Rana Akili, Fahad Hakami, Samia AlDawoud, Wardah AlMubarak, Zuhair Rahbeeni, Afaf Al-Otaibi, Amal AlShammasi, Wesam Kurdi, Samia Hagos, Maha Alnemer, Nada Alsahan, Hadeel Elbardisy, Wafaa Ali, Mohannad Ali, Mohamed Abouelhoda, Mohamed H Al-Hamed, Zeeshan Shah
المصدر: Human Genetics. 141:101-126
مصطلحات موضوعية: Genetics, Fetus, education.field_of_study, Population, Prenatal diagnosis, Consanguinity, Biology, medicine.disease, Human genetics, Ciliopathy, medicine, education, Genetics (clinical), Loss function, Exome sequencing
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4
المؤلفون: Mohamed H. Al-Hamed, John A. Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali, Maha Tulbah, Faiqa Imtiaz
المصدر: Genes; Volume 13; Issue 10; Pages: 1687
مصطلحات موضوعية: Glial Cell Line-Derived Neurotrophic Factor Receptors, CAKUT, renal agenesis, GFRA1, NPNT, prenatal exome, Mutation, Genetics, Infant, Newborn, Saudi Arabia, Humans, Protein Sorting Signals, Kidney, Urinary Tract, Genetics (clinical)
وصف الملف: application/pdf
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5
المؤلفون: Mohamed H. Al‐Hamed, Norah Altuwaijri, Nada Alsahan, Wafaa Ali, Firdous Abdulwahab, Fatema Alzahrani, Nada Majrashi, Fowzan S. Alkuraya
المصدر: Clinical geneticsREFERENCES. 102(1)
مصطلحات موضوعية: Vesico-Ureteral Reflux, Extracellular Matrix Proteins, Mice, Solitary Kidney, Urogenital Abnormalities, Genetics, Animals, Humans, Kidney Diseases, Kidney, Genetics (clinical), Congenital Abnormalities
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6
المؤلفون: Mohamed Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer, Nada AlSahan, Maisoon AlMugbel, Rafiullah Rafiullah, Mirna Assoum, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz
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7
المؤلفون: Mohamed H, Al-Hamed, Wesam, Kurdi, Rubina, Khan, Maha, Tulbah, Maha, AlNemer, Nada, AlSahan, Maisoon, AlMugbel, Rafiullah, Rafiullah, Mirna, Assoum, Dorota, Monies, Zeeshan, Shah, Zuhair, Rahbeeni, Nada, Derar, Fahad, Hakami, Gawaher, Almutairi, Afaf, AlOtaibi, Wafaa, Ali, Amal, AlShammasi, Wardah, AlMubarak, Samia, AlDawoud, Saja, AlAmri, Bashayer, Saeed, Hanifa, Bukhari, Mohannad, Ali, Rana, Akili, Laila, Alquayt, Samia, Hagos, Hadeel, Elbardisy, Asma, Akilan, Nora, Almuhana, Abrar, AlKhalifah, Mohamed, Abouelhoda, Khushnooda, Ramzan, John A, Sayer, Faiqa, Imtiaz
المصدر: Human genetics. 141(1)
مصطلحات موضوعية: Chromosome Aberrations, Genetic Variation, Microarray Analysis, Ciliopathies, Cohort Studies, Consanguinity, Fetus, Phenotype, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Genetic Testing
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8
المؤلفون: Eyad Almidani, Abdulaziz Binmanee, Nada Alsahan, Saria Alazmeh, Abdullatif Barkoumi, Saleh Al Aliyan, Mohammed Bin Jabr, Fahad Al-Hazzani, Abdulhakiem Kattan, Weam Elsaidawi
المصدر: Cureus
مصطلحات موضوعية: medicine.medical_specialty, Birth weight, Population, 030204 cardiovascular system & hematology, Pediatrics, maternal-child health, vitamin D deficiency, neonatal intensive care unit (nicu), 03 medical and health sciences, 0302 clinical medicine, pediatrics & neonatology, saudi arabia, Vitamin D and neurology, medicine, term neonates, low birth weight, Risk factor, education, education.field_of_study, Pregnancy, Obstetrics, business.industry, General Engineering, birth weight, Gestational age, vitamin d, medicine.disease, Low birth weight, preterm neonate, Obstetrics/Gynecology, Public Health, public awareness of vitamin d, medicine.symptom, business, 030217 neurology & neurosurgery
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9
المؤلفون: Fowzan S. Alkuraya, Nada Alsahan
المصدر: American journal of medical genetics. Part AREFERENCES. 182(8)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Anophthalmia, Biology, Orofaciodigital Syndromes, medicine.disease, Ciliopathies, Hydrocephalus, Single nostril, Cleft Palate, Ciliopathy, Fetus, Child, Preschool, Prenatal Diagnosis, Genetics, medicine, Humans, Female, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing
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10
المؤلفون: Mohamed H Al-Hamed, John A. Sayer, Qamariya Ambusaidi, Wafaa Ali, Faiqa Imtiaz, Wesam Kurdi, Nada Alsahan, Maha Tulbah
المصدر: Journal of nephrology. 34(3)
مصطلحات موضوعية: Nephrology, medicine.medical_specialty, RNA Splicing, 030232 urology & nephrology, Saudi Arabia, Physiology, Oligohydramnios, 030204 cardiovascular system & hematology, Kidney, Congenital Abnormalities, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Pregnancy, Internal medicine, medicine, Humans, Renal agenesis, Fraser syndrome, Exome sequencing, Extracellular Matrix Proteins, business.industry, medicine.disease, Bilateral Renal Agenesis, medicine.anatomical_structure, Female, Kidney Diseases, business, Kidney disease
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11
المؤلفون: Alya Alkaff, Wafaa Eyaid, Nada Alsahan, Rubina Khan, Niema Meriki, Yasser Alsaber, Saeed Al Tala, Mohamed Zain Seidahmed, Fatima Almusafri, Firdous Abdulwahab, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Mariam Al Mulla, Hanan E. Shamseldin, Zeneb A. Babay, Eissa Faqeih, Ahmed Kurdi, Elham Al Mardawi, Karen El-Akouri, Ola Khalifa, Ranad Shaheen, Wesam Kurdi, Nour Ewida, Sebahattin Cirak, Eman Alobeid, Alya Qari, Zuhair Rahbeeni, Matthias Pergande, Maha Alnemer, Maha Tulbah, Bahauddin Sallout, Tarfa Alshidi, Amal Alhashem, Niema Ibrahim, Mais Hashem
المصدر: Genetics in Medicine. 20:420-427
مصطلحات موضوعية: 0301 basic medicine, Prenatal diagnosis, Autopsy, Biology, Workflow, 03 medical and health sciences, symbols.namesake, Pregnancy, Cause of Death, Prenatal Diagnosis, Exome Sequencing, Humans, Genetic Predisposition to Disease, Precision Medicine, Genetic Association Studies, Genetics (clinical), Exome sequencing, Cause of death, Genetics, Fetus, Genetic Diseases, Inborn, ALPL, Phenotype, 030104 developmental biology, Molecular Diagnostic Techniques, Mendelian inheritance, symbols, Female, Genes, Lethal
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12
المؤلفون: Maha Tulbah, Wesam Kurdi, John A. Sayer, Mohamed H Al-Hamed, Nada Alsahan, Qaamariya Ambosaidi
المصدر: Clinical Kidney Journal
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, prenatal, antenatal ultrasound scan, 030232 urology & nephrology, Oligohydramnios, Prenatal care, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Internal medicine, medicine, Exome sequencing, Potter Syndrome, Transplantation, Fetus, business.industry, mutations, medicine.disease, 3. Good health, 030104 developmental biology, Endocrinology, Nephrology, renal tubular dysgenesis, Anuria, medicine.symptom, business
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13
المؤلفون: Mohamed H Al-Hamed, John A. Sayer, Wafa Ali, Naderah Altaleb, Faiqa Imtiaz, Maha Alnemer, Wesam Kurdi, Noel Edwards, Eman Nooreddeen, Sarah J. Rice, Najd Almejaish, Maha Alotaibi, Nouf S. Al-Numair, Nada Alsahan
المصدر: Pediatric nephrology (Berlin, Germany). 34(9)
مصطلحات موضوعية: Male, medicine.medical_specialty, TRPP Cation Channels, DNA Mutational Analysis, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Saudi Arabia, Consanguinity, 030204 cardiovascular system & hematology, urologic and male genital diseases, Compound heterozygosity, Kidney, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, medicine, Polycystic kidney disease, Humans, Computer Simulation, Allele, Age of Onset, Child, Ultrasonography, Genetics, PKD1, urogenital system, business.industry, Homozygote, musculoskeletal system, medicine.disease, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, Ciliopathy, Nephrology, Pediatrics, Perinatology and Child Health, Mutation, cardiovascular system, Female, business
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14
المؤلفون: Mohamed Abouelhoda, John A. Sayer, Maha Alnemer, Dorota Monies, Maha Tulbah, Nada Al-Tassan, Salma Majid, Haya Al-Jurayb, Ahmed Alahmed, Mamdouh Albaqumi, Brian F. Meyer, Nada Alsahan, Dania S. Khalil, Mohamed H Al-Hamed, Basma Al Abdulaziz, Faisal S. BinHumaid, Rania Abudraz, Wesam Kurdi, Mohamed El-Kalioby, Noel Edwards, Asma I. Tahir, Zainab Alabdullah, Rubina Khan, Tariq Faquih
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Heart malformation, Perinatal Death, DNA Mutational Analysis, Saudi Arabia, 030105 genetics & heredity, CC2D2A, 03 medical and health sciences, Cystic kidney disease, Fetus, Pregnancy, Molecular genetics, Genotype, Genetics, Humans, NIMA-Related Kinases, Medicine, Genetics (clinical), Exome sequencing, Cystic kidney, Developmental Defects, business.industry, Infant, Newborn, Proteins, Exons, Syndrome, Kidney Diseases, Cystic, medicine.disease, Ciliopathies, Arabs, Cytoskeletal Proteins, Ciliopathy, 030104 developmental biology, Mutation, Female, business
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15
المؤلفون: Malak Alghamdi, Susan Alhumaidi, Saeed Altala, Mirna Assoum, Aziza Chedrawi, Moeen Al-Sayed, Hisham Aldhalaan, Suzan A AlKhater, M. Abouelhoda, Turki Alshareef, Maha Alotaibi, Khalid S. Alqadi, Alya Alkaff, Syed Ahmed, Musad Abu Khaled, Suad Al Yamani, Bassem Albeirouti, Ali Al-Mehaidib, Walaa Alshuaibi, Nawal Makhseed, Ghada M H Abdel-Salam, Ewa Goljan, Zuhair Rahbeeni, Maisoon Almugbel, Shaza Makki, Ranad Albar, Fuad Al Mutairi, Khalid Alsaleem, Hanaa Banjar, Fahad A. Bashiri, Abdulaziz Bin Manee, Mona Alsaleh, Marwan Shaheen, Mohammed Fawzy, Sami Wali, Fahad Almohareb, Hisham Alkuraya, Shakir Bahzad, Ayman Shawli, Wesam Kurdi, Wajeeh Aldekhail, Somaya Alzelaye, Rand Arnaout, Abdullah Alsonbul, Sami Al-Hajjar, Saeed Hassan, Sameena Khan, Mohammed AlBalwi, Khalid Awartani, Sulaiman M. Al-Mayouf, Amal Alhashem, Hamoud Al-Mousa, Abdulaziz Alsemari, Hadeel Elbardisy, Mohamed El-Kalioby, Edward Cupler, Bandar Al-Saud, Hadeel Alghamdi, Isam Salih, Saadeh Sermin, Fahad Alsohaibaini, Shapar Nahrir, Hibah Alruwaili, Hamad Al-Zaidan, Nada Alsahan, Abdullah Alfaifi, Dalal K. Bubshait, Mohammed Nasr, Ahmed Alnahari, Ameen Tajuddin, Maged H. Hussein, Muddathir H Hamad, Asma Akilan, Afaf Alsagheir, Dorota Monies, Shamsad Shahrukh, Emadia Alaki, Tariq Abalkhail, Ahmed Sahly, Hamsa T. Tayeb, Badi Alenazi, Fowzan S. Alkuraya, Mohammed Al-Owain, Mohammed Abanemai, Ali Al-Ahmari, Maha Faden, Neama Meriki, Amal Alqasmi, Talal A. Basha, Hatem Murad, Hanna Akleh, Nabil Moghrabi, Asma I. Tahir, Abdulhadi Altalhi, Amal Jaafar, Ola Jarrad, Salah Baz, Abdullah Tamim, Ibraheem F. Abosoudah, Shazia Subhani, Manal Badawi, Raashida Sulaiman, Essam Al-Sabban, Brian F. Meyer, Talal Algoufi, Alya Qari, Mohammed Mahnashi, Hasan Al-Dhekri, Saeed Bohlega, Rafiullah Rafiullah, Naif A.M. Almontashiri, Mustafa A. Salih, Shahrukh K. Hashmi, Ibrahim Ghemlas, Zeeshan Shah, Abdullah Alashwal, Ehab Tous
المصدر: The American Journal of Human Genetics. 105:879
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Population, Saudi Arabia, Germline mosaicism, Genes, Recessive, Consanguinity, 030105 genetics & heredity, Biology, Article, Cohort Studies, 03 medical and health sciences, Pregnancy, Genotype, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Allele, education, Child, Exome, Exome sequencing, Genetics (clinical), education.field_of_study, Homozygote, Correction, Genetic Diseases, X-Linked, 030104 developmental biology, Phenotype, Mutation, Female
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16
المؤلفون: Mais Hashem, Ola Khalifa, Niema Ibrahim, Zainab A. Babay, Dalal K. Bubshait, Zuhair Rahbeeni, Firdous Abdulwahab, Wesam Kurdi, Amal M. Hashem, Fowzan S. Alkuraya, Maha Nemer, Hanan E. Shamseldin, Elham Al Mardawi, Nada Alsahan, Ahmed Kurdi, Maha Tulbah
المصدر: Genome Biology
مصطلحات موضوعية: Genetics, Candidate gene, Research, Homozygote, Chromosome Mapping, Sequence Analysis, DNA, Biology, Embryo, Mammalian, Phenotype, Human genetics, Pedigree, 3. Good health, Consanguinity, symbols.namesake, Mutation, Mendelian inheritance, symbols, Humans, Lethal allele, Exome, Family, Genes, Lethal, Gene, Exome sequencing
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17
المؤلفون: Rana Alomar, Mohammed Zain Seidahmed, Fowzan S. Alkuraya, Seema Kapoor, Elham Al Mardawi, Mohamed Ibrahim Khalil, Niema Ibrahim, Amal Alhashem, Agaadir Almoisheer, Ankur Singh, Mohamed Abouelhoda, Maha Alnemer, Zainab A. Babay, Eissa Faqeih, Samira Sogaty, Ranad Shaheen, Nada Alsahan, Dorota Monies, Wesam Kurdi, Manisha Goyal, Nada Al Tassan
المصدر: Human molecular genetics. 24(18)
مصطلحات موضوعية: Male, Genotype, DNA Mutational Analysis, Locus (genetics), Biology, Ciliopathies, Consanguinity, Genetic Heterogeneity, Ciliogenesis, Genetics, medicine, Humans, Hedgehog Proteins, Cilia, Molecular Biology, Genetics (clinical), Exome sequencing, Alleles, Encephalocele, Cystic kidney, Polycystic Kidney Diseases, urogenital system, Genetic heterogeneity, Cilium, Membrane Proteins, General Medicine, medicine.disease, Pedigree, Ciliopathy, Genetic Loci, Mutation, Female, Retinitis Pigmentosa, Ciliary Motility Disorders, Signal Transduction