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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14.
Hum Genet. 2023.
PMID: 37183190
Free PMC article.
Review.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C.
Langhammer F, et al. Among authors: al alam c.
Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8.
Genet Med. 2023.
PMID: 37165955
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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, Al Alam C, Alesi V, Benoit V, Bhatia KP, Bierhals T, Boßelmann CM, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Geßner M, Gobert C, Guliyeva U, Haack TB, Hammer TB, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi MY, Moudi M, Müller AJ, Oostra AJ, Pletcher BA, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki MS, Zech M, Lerche H, Radio FC, Gomez-Puertas P, Møller RS, Tümer Z.
Christensen MB, et al. Among authors: al alam c.
Clin Genet. 2022 Aug;102(2):98-109. doi: 10.1111/cge.14165. Epub 2022 Jun 8.
Clin Genet. 2022.
PMID: 35616059
Free PMC article.
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FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
Ballout RA, Al Alam C, Bonnen PE, Huemer M, El-Hattab AW, Shbarou R.
Ballout RA, et al. Among authors: al alam c.
Front Genet. 2019 Feb 5;10:39. doi: 10.3389/fgene.2019.00039. eCollection 2019.
Front Genet. 2019.
PMID: 30804983
Free PMC article.
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Clinical Features and Outcome of Sickle Cell Disease in a Tertiary Center in Northern Lebanon: A Retrospective Cohort Study in a Local, Hospital-Associated Registry.
Inati A, Al Alam C, El Ojaimi C, Hamad T, Kanakamedala H, Pilipovic V, Sabah R.
Inati A, et al. Among authors: al alam c.
Hemoglobin. 2021 Mar;45(2):80-86. doi: 10.1080/03630269.2021.1904974. Epub 2021 May 13.
Hemoglobin. 2021.
PMID: 33980108
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