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

Year Number of Results
1975 1
1980 1
1982 1
1983 1
1984 2
1987 2
1988 1
1989 1
1990 1
1993 1
1994 1
1998 1
1999 1
2001 1
2005 2
2006 3
2007 1
2010 1
2011 1
2012 1
2013 2
2014 1
2019 1
2024 0

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27 results

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Page 1
Cohesin complex-associated holoprosencephaly.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Kruszka P, et al. Among authors: stephan mj. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. Brain. 2019. PMID: 31334757 Free PMC article.
Enlarged pupillary membranes.
Mader TH, Wergeland FL Jr, Chismire KJ, Stephan MJ. Mader TH, et al. Among authors: stephan mj. J Pediatr Ophthalmol Strabismus. 1988 Mar-Apr;25(2):73-4. doi: 10.3928/0191-3913-19880301-06. J Pediatr Ophthalmol Strabismus. 1988. PMID: 3357130
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Below JE, et al. Among authors: stephan mj. Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273567 Free PMC article.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada; Parboosingh JS, Innes AM, Doherty D. Aldinger KA, et al. Among authors: stephan mj. Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Am J Hum Genet. 2014. PMID: 25105227 Free PMC article.
Origin of scalp vertex aplasia cutis.
Stephan MJ, Smith DW, Ponzi JW, Alden ER. Stephan MJ, et al. J Pediatr. 1982 Nov;101(5):850-3. doi: 10.1016/s0022-3476(82)80346-6. J Pediatr. 1982. PMID: 7131176 No abstract available.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: stephan mj. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328. Hum Mutat. 2010. PMID: 20672375 Free PMC article.
27 results