Molecular autopsy by proxy in preconception counseling von Ali Alghamdi, Malak, Alrasheedi, Ameinah, Alghamdi, Esra, Adly, Nouran, AlAali, Wajeih Y., Alhashem, Amal, Alshahrani, Abdulaziz, Shamseldin, Hanan, Alkuraya, Fowzan S., Alfadhel, Majid

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A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings von Alghamdi, Malak Ali, Mulla, Jaazeel, Saheb Sharif-Askari, Narjes, Guzmán-Vega, Francisco J, Arold, Stefan T, Abd-Alwahed, Mervat, Alharbi, Nasser, Kashour, Tarek, Halwani, Rabih

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Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy von Abbasi‐Moheb, Lia, Westenberger, Ana, Alotaibi, Maha, Alghamdi, Malak Ali, Hertecant, Jozef L., Ariamand, Amir, Beetz, Christian, Rolfs, Arndt, Bertoli‐Avella, Aida M., Bauer, Peter

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Atypical presentation of pallister–Hall syndrome with central precious puberty von Hala Gasim Omer, Amal Ali Alhakami, Malak Ali Alghamdi, Reem Abdullah Al Khalifah

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Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman von Alghamdi, Malak Ali, O'Donnell-Luria, Anne, Almontashiri, Naif A, AlAali, Wajeih Y, Ali, Hebatallah H, Levy, Harvey L

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Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome von Ali Alghamdi, Malak, Benabdelkamel, Hicham, Masood, Afshan, Saheb Sharif-Askari, Narjes, Hachim, Mahmood Y., Alsheikh, Hamad, Hamad, Muddathir H., Salih, Mustafa A., Bashiri, Fahad A., Alhasan, Khalid, Kashour, Tarek, Guatibonza Moreno, Pilar, Schröder, Sabine, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Alkhalidi, Hisham, Jamjoom, Dima Z., Alorainy, Ibrahim A., Alfadda, Assim A., Halwani, Rabih

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A challenging diagnosis of B-ketothiolase deficiency mimicking type 1 diabetes mellitus von Amal Ali Al-Hakami, Malak Ali Alghamdi, Khalid Sumaily, Reem Abdullah Al-Khalifah

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Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital von Alhasan, Khalid A., Alshuaibi, Walaa, Hamad, Muddathir H., Salim, Suha, Jamjoom, Dima Z., Alhashim, Aqeela H., AlGhamdi, Malak Ali, Kentab, Amal Y., Bashiri, Fahad A.

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Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism von Alghamdi, Malak Ali, Alkhamis, Waleed H., Jamjoom, Dima Z., Al Khalifah, Reem, Alshammari, Nawaf Rahi, Alsumaili, Khalid, Arold, Stefan T.

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Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant von Alghamdi, Malak Ali, Hamad, Muddathir H, Alghamdi, Isra, Alghamdi, Ghiada, Al-Jelaify, Muneera, Alshimemeri, Sohaila, Hamed, Hebattalah, Adly, Nouran, Salih, Mustafa A, Almontashiri, Naif A, Bashiri, Fahad A

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Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review von Abukhaled, Musaad, Al Muqbil, Mohammed, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan, Ben-Omran, Tawfeg, Alfadhel, Majid, Almannai, Mohammed, Alsaleh, Rehab, Tabarki, Brahim

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Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review von Abukhaled, Musaad, Al Muqbil, Mohammed, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan, Ben-Omran, Tawfeg, Alfadhel, Majid, Almannai, Mohammed, Alsaleh, Rehab, Tabarki, Brahim

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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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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans von Szenker-Ravi, Emmanuelle, Ott, Tim, Yusof, Amirah, Chopra, Maya, Khatoo, Muznah, Pak, Beatrice, Xuan Goh, Wei, Beckers, Anja, Brady, Angela F, Ewans, Lisa J, Djaziri, Nabila, Almontashiri, Naif A M, Alghamdi, Malak Ali, Alharby, Essa, Dasouki, Majed, Romo, Lindsay, Tan, Wen-Hann, Maddirevula, Sateesh, Alkuraya, Fowzan S, Giordano, Jessica L, Alkelai, Anna, Wapner, Ronald J, Stals, Karen, Alfadhel, Majid, Alswaid, Abdulrahman Faiz, Bogusch, Susanne, Schafer-Kosulya, Anna, Vogel, Sebastian, Vick, Philipp, Schweickert, Axel, Wakeling, Matthew, Moreau de Bellaing, Anne, Alshamsi, Aisha M, Sanlaville, Damien, Mbarek, Hamdi, Saad, Chadi, Ellard, Sian, Eisenhaber, Frank, Tripolszki, Kornelia, Beetz, Christian, Bauer, Peter, Gossler, Achim, Eisenhaber, Birgit, Blum, Martin, Bouvagnet, Patrice, Bertoli-Avella, Aida, Amiel, Jeanne, Gordon, Christopher T, Reversade, Bruno

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Thöny, Beat, Blau, Nenad

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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome von Faqeih, Eissa A., Alghamdi, Malak Ali, Almahroos, Marwa A., Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M., Clément, Prouteau, Calame, Daniel G., Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R., Pastore, Annalisa, Peake, Roy W.A., Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A.M.

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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital von Alhasan, Khalid A, Alshuaibi, Walaa, Hamad, Muddathir H, Salim, Suha, Jamjoom, Dima Z, Alhashim, Aqeela H, AlGhamdi, Malak Ali, Kentab, Amal Y, Bashiri, Fahad A

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