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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 2
1969 1
1977 1
1979 1
1984 1
1985 1
1986 2
1987 1
1989 3
1990 3
1991 5
1994 3
1995 4
1996 4
1997 3
1998 1
1999 3
2000 5
2001 6
2002 3
2003 4
2004 5
2006 1
2007 5
2008 3
2009 3
2010 5
2011 7
2012 6
2013 8
2014 9
2015 5
2016 4
2017 7
2018 8
2019 3
2020 4
2021 10
2022 10
2023 5
2024 6
2025 0

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160 results

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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: huber i. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Sexually transmitted diphtheria.
Berger A, Lensing C, Konrad R, Huber I, Hogardt M, Sing A. Berger A, et al. Among authors: huber i. Sex Transm Infect. 2013 Mar;89(2):100-1. doi: 10.1136/sextrans-2011-050418. Epub 2012 May 23. Sex Transm Infect. 2013. PMID: 22628666
Utilizing Human-Induced Pluripotent Stem Cells to Study Cardiac Electroporation Pulsed-Field Ablation.
Maizels L, Heller E, Landesberg M, Glatstein S, Huber I, Arbel G, Gepstein A, Aronson D, Sharabi S, Beinart R, Segev A, Maor E, Gepstein L. Maizels L, et al. Among authors: huber i. Circ Arrhythm Electrophysiol. 2024 Mar;17(3):e012278. doi: 10.1161/CIRCEP.123.012278. Epub 2024 Feb 12. Circ Arrhythm Electrophysiol. 2024. PMID: 38344845 Free PMC article.
1st German Phage Symposium-Conference Report.
Huber I, Potapova K, Kuhn A, Schmidt H, Hinrichs J, Rohde C, Beyer W. Huber I, et al. Viruses. 2018 Mar 29;10(4):158. doi: 10.3390/v10040158. Viruses. 2018. PMID: 29596346 Free PMC article.
Modeling Flood-Induced Stress in Soybeans.
Pasley HR, Huber I, Castellano MJ, Archontoulis SV. Pasley HR, et al. Among authors: huber i. Front Plant Sci. 2020 Feb 12;11:62. doi: 10.3389/fpls.2020.00062. eCollection 2020. Front Plant Sci. 2020. PMID: 32117398 Free PMC article.
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Kooblall K, Lapunzina P, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker RV, Valdez RM, Van Haeringen A, Van Hagen JM, Zenker M, Zollino M, Dunn WW, Piening S, Hennekam RC. Mulder PA, et al. Among authors: huber i. J Intellect Disabil Res. 2020 Dec;64(12):956-969. doi: 10.1111/jir.12787. Epub 2020 Oct 9. J Intellect Disabil Res. 2020. PMID: 33034087 Free PMC article.
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ØL, Busk ØL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Barish S, et al. Among authors: huber i. Am J Hum Genet. 2024 Nov 7;111(11):2566-2581. doi: 10.1016/j.ajhg.2024.10.002. Epub 2024 Oct 28. Am J Hum Genet. 2024. PMID: 39471804
160 results