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Results by year

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

Year Number of Results
1972 1
1976 1
1977 1
1978 1
1979 2
1980 2
1981 2
1982 1
1984 1
1985 4
1986 1
1987 4
1989 3
1990 1
1991 2
1992 3
1993 2
1994 1
1995 4
1996 2
1997 3
1998 2
1999 2
2000 2
2001 2
2002 2
2003 5
2004 5
2005 4
2006 4
2007 7
2008 8
2009 2
2010 10
2011 7
2012 7
2013 2
2014 4
2015 4
2016 7
2017 11
2018 8
2019 6
2020 6
2021 11
2022 13
2023 4

Text availability

Article attribute

Article type

Publication date

PubMed for id: 1648288

166 results

Results by year

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Page 1
Five siblings expand the spectrum of GPC6-related skeletal dysplasia.
Crenshaw MM, Meyers ML, Brown K, Slegesky V, Duis J, Elias ER, Saenz M, Shi W, Filmus J, Meeks NJL. Crenshaw MM, et al. Am J Med Genet A. 2023 Oct;191(10):2571-2577. doi: 10.1002/ajmg.a.63337. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37353964
Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes.
Lourdes Frehner B, Christen M, Reichler IM, Jagannathan V, Novacco M, Riond B, Peters LM, Suárez Sánchez-Andrade J, Pieńkowska-Schelling A, Schelling C, Kipar A, Leeb T, Balogh O. Lourdes Frehner B, et al. PLoS Genet. 2023 Jun 22;19(6):e1010805. doi: 10.1371/journal.pgen.1010805. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37347778 Free PMC article.
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F. Buchh M, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36442996 Free PMC article.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. Thomas Q, et al. Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30. Am J Hum Genet. 2022. PMID: 36044892 Free PMC article.
Genetic architecture of band neutrophil fraction in Iceland.
Oskarsson GR, Magnusson MK, Oddsson A, Jensson BO, Fridriksdottir R, Arnadottir GA, Katrinardottir H, Rognvaldsson S, Halldorsson GH, Sveinbjornsson G, Ivarsdottir EV, Stefansdottir L, Ferkingstad E, Norland K, Tragante V, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurjonsdottir S, Petursdottir KO, Davidsson OB, Rafnar T, Holm H, Olafsson I, Onundarson PT, Vidarsson B, Sigurdardottir O, Masson G, Gudbjartsson DF, Jonsdottir I, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Commun Biol. 2022 Jun 1;5(1):525. doi: 10.1038/s42003-022-03462-1. Commun Biol. 2022. PMID: 35650273 Free PMC article.
166 results