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783 results

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Page 1
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. Among authors: morin d. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
[Epidemiology of childhood chronic kidney diseases].
Harambat J, Morin D. Harambat J, et al. Among authors: morin d. Med Sci (Paris). 2023 Mar;39(3):209-218. doi: 10.1051/medsci/2023027. Epub 2023 Mar 21. Med Sci (Paris). 2023. PMID: 36943117 Free article. French.
Postnatal outcome of children with antenatal colonic hyperechogenicity.
Fuchs F, Rodriguez A, Mousty E, Morin D, Roubertie A, Wells CF, Prodhomme O, Benoist JF, Dreux S, Faure JM, Willems M. Fuchs F, et al. Among authors: morin d. Prenat Diagn. 2024 Jan;44(1):28-34. doi: 10.1002/pd.6475. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054546
Participant Engagement and Preference Study for Clinical Outcomes Associated With Atrial Fibrillation: The PEARL-AF Study.
Reed SD, Harrington JL, Morin DP, Saba SF, Montgomery JA, Harrison RW, Frisch DR, Viethen T, Tamm M, Xiao J, Mundl H, Coppolecchia R, Yang JC, Wallace MJ, Gonzalez JM, Patel MR. Reed SD, et al. Among authors: morin dp. JACC Adv. 2024 Oct 26;3(12):101370. doi: 10.1016/j.jacadv.2024.101370. eCollection 2024 Dec. JACC Adv. 2024. PMID: 39568653 Free PMC article.
Lipoprotein (a) Testing in Patients With Atherosclerotic Cardiovascular Disease in 5 Large US Health Systems.
Shah NP, Mulder H, Lydon E, Chiswell K, Hu X, Lampron Z, Cohen L, Patel MR, Taubes S, Song W, Mulukutla SR, Saeed A, Morin DP, Bradley SM, Hernandez AF, Pagidipati NJ. Shah NP, et al. Among authors: morin dp. J Am Heart Assoc. 2024 Nov 5;13(21):e035610. doi: 10.1161/JAHA.124.035610. Epub 2024 Nov 4. J Am Heart Assoc. 2024. PMID: 39494552 Free article.
783 results