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Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Among authors: martin p. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Fluegel D, Winkler J. Aigner L, et al. Among authors: martin p. Neurology. 2003 Jan 28;60(2):329-32. doi: 10.1212/01.wnl.0000042091.90361.d2. Neurology. 2003. PMID: 12552055
ARX mutations in X-linked lissencephaly with abnormal genitalia.
Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J. Uyanik G, et al. Among authors: martin p. Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba. Neurology. 2003. PMID: 12874405
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G. Morris-Rosendahl DJ, et al. Among authors: martin p. Clin Genet. 2008 Nov;74(5):425-33. doi: 10.1111/j.1399-0004.2008.01093.x. Clin Genet. 2008. PMID: 18954413
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Among authors: martin p. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.
A dataset of crop succession indicators for 2015-2021.
Dedieu MS, Poméon T, Girault B, Martin P, Bockstaller C. Dedieu MS, et al. Among authors: martin p. Data Brief. 2024 Sep 4;57:110907. doi: 10.1016/j.dib.2024.110907. eCollection 2024 Dec. Data Brief. 2024. PMID: 39314891 Free PMC article.
Development of bioactive solid-foam scaffolds from decellularized cartilage with chondrogenic and osteogenic properties.
Mendibil U, Lópiz-Morales Y, Arnaiz B, Ruiz-Hernández R, Martín P, Di-Silvio D, Garcia-Urquia N, Elortza F, Azkargorta M, Olalde B, Abarrategi A. Mendibil U, et al. Among authors: martin p. Mater Today Bio. 2024 Sep 3;28:101228. doi: 10.1016/j.mtbio.2024.101228. eCollection 2024 Oct. Mater Today Bio. 2024. PMID: 39296356 Free PMC article.
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.
Laugwitz L, Mechtler TP, Janzen N, Oliva P, Kasper AR, Teunissen CE, Bürger F, Janda J, Döring M, Weitz M, Lang P, Martin P, Beck-Woedl S, Chanson C, Essing MM, Shenker A, Haack TB, Schulte JH, Rosewich H, Streubel B, Kasper DC, Groeschel S. Laugwitz L, et al. Among authors: martin p. N Engl J Med. 2024 Sep 18. doi: 10.1056/NEJMc2407165. Online ahead of print. N Engl J Med. 2024. PMID: 39292923 No abstract available.
7,982 results