Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region von Hassnan, Zuhair Al, Hashmi, Nadia Al, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Teneiji, Amal Al

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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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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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Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset von Al‐Thihli, Khalid, Afting, Cassian, Al‐Hashmi, Nadia, Mohammed, Mohammed, Sliwinski, Svenja, Al Shibli, Naema, Al‐Said, Khoula, Al‐Kasbi, Ghalia, Al‐Kharusi, Khalsa, Merle, Uta, Füllekrug, Joachim, Al‐Maawali, Almundher

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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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Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome von Al Riyami, Mohamed S, Al Alawi, Intisar, Al Gaithi, Badria, Al Maskari, Anisa, Al Kalbani, Naifain, Al Hashmi, Nadia, Al Balushi, Aisha, Al Shahi, Maryam, Al Saidi, Suliman, Al Bimani, Muna, Al Hatali, Fahad, Mabillard, Holly, Sayer, John A

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Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin von Balobaid, Ameera, Ben‐Omran, Tawfeg, Ramzan, Khushnooda, Altassan, Ruqaiah, Almureikhi, Mariam, Musa, Sara, Al‐Hashmi, Nadia, Al‐Owain, Mohammed, Al‐Zaidan, Hamad, Al‐Hassnan, Zuhair, Imtiaz, Faiqa, Al‐Sayed, Moeenaldeen

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Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region von Al-Hassnan, Zuhair, Al Hashmi, Nadia, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Al Teneiji, Amal

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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction von Kaustio, Meri, Nayebzadeh, Naemeh, Hinttala, Reetta, Tapiainen, Terhi, Åström, Pirjo, Mamia, Katariina, Pernaa, Nora, Lehtonen, Johanna, Glumoff, Virpi, Rahikkala, Elisa, Honkila, Minna, Olsén, Päivi, Hassinen, Antti, Polso, Minttu, Al Sukaiti, Nashat, Al Shekaili, Jalila, Al Kindi, Mahmood, Al Hashmi, Nadia, Almusa, Henrikki, Bulanova, Daria, Haapaniemi, Emma, Chen, Pu, Suo-Palosaari, Maria, Vieira, Päivi, Tuominen, Hannu, Kokkonen, Hannaleena, Al Macki, Nabil, Al Habsi, Huda, Löppönen, Tuija, Rantala, Heikki, Pietiäinen, Vilja, Zhang, Shen-Ying, Renko, Marjo, Hautala, Timo, Al Farsi, Tariq, Uusimaa, Johanna, Saarela, Janna

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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders von Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

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Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome von Al Kalbani, Naifain, Al Hashmi, Nadia, Al Ghaithi, Badria, Al Riyami, Mohamed 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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Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability von Al-Yarubi, Naeema, Al-Kathir, Salim, Mohammed, Mohammed, Al-Hashmi, Nadia, Scott, Patrick

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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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Genotype‒phenotype correlation in recessive DNAJB4 myopathy von Inoue, Michio, Jayaraman, Divya, Bengoechea, Rocio, Bhadra, Ankan, Genetti, Casie A, Aldeeri, Abdulrahman A, Turan, Betül, Pacheco-Orozco, Rafael Adrian, Al-Maawali, Almundher, Al Hashmi, Nadia, Zamani, Ayşe Gül, Göktaş, Emine, Pekcan, Sevgi, Çağlar, Hanife Tuğçe, True, Heather, Beggs, Alan H, Weihl, Conrad C

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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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Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans von Shaheen, Ranad, Al‐Owain, Mohammed, Faqeih, Eissa, Al‐Hashmi, Nadia, Awaji, Ali, Al‐Zayed, Zayed, Alkuraya, Fowzan S

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Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII von Kaya, Namik, Aldhalaan, Hesham, Al-Younes, Banan, Colak, Dilek, Shuaib, Taghreed, Al-Mohaileb, Fahad, Al-Sugair, Abdulaziz, Nester, Michael, Al-Yamani, Suad, Al-Bakheet, Albandary, Al-Hashmi, Nadia, Al-Sayed, Moeen, Meyer, Brian, Jungbluth, Heinz, Al-Owain, Mohammed

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Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period von Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid

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LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17 von Al Jabry, Tariq, Al-Hashmi, Nadia, Abdelhadi, Basem, Al-Maawali, Almundher

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