Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits von Al‐Nabhani, Maryam, Al‐Rashdi, Samiya, Al‐Murshedi, Fathiya, Al‐Kindi, Adila, Al‐Thihli, Khalid, Al‐Saegh, Abeer, Al‐Futaisi, Amna, Al‐Mamari, Watfa, Zadjali, Fahad, Al‐Maawali, Almundher

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Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome von Esveld, Selma L., Rodenburg, Richard J., Al‐Murshedi, Fathiya, Al‐Ajmi, Eiman, Al‐Zuhaibi, Sana, Huynen, Martijn A., Spelbrink, Johannes N.

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Domino liver transplantation for maple syrup urine disease in children: A single‐center case series von Kumar, Vikram, Gautam, Vipul, Agarwal, Shaleen, Pandey, Vijaykant, Goyal, Sumit, Nasa, Vaibhav, Singh, Shweta A., Al‐Thihli, Khalid, Al‐Murshedi, Fathiya, Al Hashmi, Nadia, Al Rawahi, Yusriya, Al‐Bahlani, Al‐Qasim, Al Said, Khoula, Gupta, Subhash

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Further phenotypic delineation of Alazami syndrome von Al‐Hinai, Abdulhamid, Al‐Hashmi, Samiya, Ganesh, Anuradha, Al‐Hashmi, Nadia, Al‐Saegh, Abeer, Al‐Mamari, Watfa, Al‐Murshedi, Fathiya, Al‐Thihli, Khalid, Al‐Kindi, Adila, Al‐Maawali, Almundher

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Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants von Al‐Murshedi, Fathiya, Mirza, Hassan, Al‐Saegh, Abeer, Al‐Nabhani, Maryam, Al‐Shabibi, Saud, Baawain, Saleh, Al‐Futaisi, Amna, Al‐Shehhi, Wafaa, Al‐Maawali, Almundher

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Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination von Al Shidhani, Azza, Al Hinai, Abdulhamid, Al Thihli, Khalid, Al Mandhari, Hilal, Al Yaarubi, Saif, Ullah, Irfan, Al-Hashmi, Nadia, Al Murshedi, Fathiya

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A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency von Al‐Thihli, Khalid, Al Hashmi, Nadia, Al Balushi, Aaisha, Al‐Habsi, Asila, Al‐Ajmi, Eiman, Al‐Jasmi, Fatma, Al‐Murshedi, Fathiya

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Transient response to high‐dose niacin therapy in a patient with NAXE deficiency von Al‐Amrani, Fatema, Al‐Thihli, Khalid, Al‐Ajmi, Eiman, Al‐Futaisi, Amna, Al‐Murshedi, Fathiya

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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities von Alrakaf, Laila, Al‐Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair A., Murshedi, Fathiya Al, Ani, Nadia Al, Al‐Maawali, Almundher, Ibrahim, Niema A., Abdulwahab, Firdous M., Alsagob, Maysoon, Hashem, Mais O., Ramadan, Wafaa, Abouelhoda, Mohamed, Meyer, Brian F., Kaya, Namik, Maddirevula, Sateesh, Alkuraya, Fowzan S.

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Expanding the genetic heterogeneity of intellectual disability von Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

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Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease von Al-Murshedi , Fathiya, Bruwer , Zandre, Al-Kharusi , Khalsa, Meftah , Douja, Scott , Patrick

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The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families von Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Hashimi, Nadia, Al-Thihli, Khalid, Al-Saegh, Abeer, Al-Futaisi, Amna, Al-Mamari, Watfa, Al-Asmi, Abdullah, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Rashdi, Samiya, Zadjali, Fahad, Al-Yahyaee, Said, Al-Maawali, Almundher

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CNP deficiency causes severe hypomyelinating leukodystrophy in humans von Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, Alkuraya, Fowzan S.

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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families von Al Busaidi, Marwa, Mohamed, Feda E, Al-Ajmi, Eiman, Al Hashmi, Nadia, Al-Thihli, Khalid, Al Futaisi, Amna, Al Mamari, Watfa, Al-Murshedi, Fathiya, Al-Jasmi, Fatma

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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects von Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger

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Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive von Baertling, Fabian, Al‐Murshedi, Fathiya, Sánchez‐Caballero, Laura, Al‐Senaidi, Khalfan, Joshi, Niranjan P, Venselaar, Hanka, den Brand, Mariël AM, Nijtmans, Leo GJ, Rodenburg, Richard JT

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Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome von Kiran, Shashi, Murshedi, Fathiya Al, Jabri, Sheikha Al, Devi, Meka Nirmala

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The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region von AlSayed, Moeenaldeen, Al-Jasmi, Fatma, Omran, Tawfeg, Al-Murshedi, Fathiya, Sunbul, Rawda, Al-Hashmi, Nadia, Al-Enazi, Talal

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Severe Acute Disseminated Encephalomyelitis Mimicking Leukodystrophy in a Child von Al-Murshedi , Fathiya, Alazri , Faisal, Koul , Roshan, Al-Futasi , Amna, Abdelmogheth , Anas A

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Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1 von Al-Murshedi , Fathiya, Al-Nabhani , Dana, Al-Thihli , Khalid, Al-Hinai , Abdulhamid

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