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Results by year

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

Year Number of Results
1938 1
1940 2
1942 1
1943 1
1944 1
1946 3
1947 1
1949 5
1950 2
1951 2
1952 4
1954 2
1955 5
1958 1
1959 1
1960 2
1961 2
1962 2
1964 3
1966 2
1967 1
1968 2
1970 1
1971 2
1972 1
1973 1
1974 4
1976 1
1977 1
1978 2
1985 1
1986 2
1987 1
1989 1
1991 2
1992 2
1993 1
1995 1
1997 1
1998 1
1999 1
2000 1
2001 1
2003 1
2010 1
2014 2
2015 2
2016 2
2019 4
2020 2
2021 1
2022 1
2024 10

Text availability

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Search Results

99 results

Results by year

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Page 1
Acrocephaly-syndactyly.
CORNER BD. CORNER BD. Proc R Soc Med. 1946 Sep;39(11):692. Proc R Soc Med. 1946. PMID: 21065302 Free article. No abstract available.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 Sep;26(9):101166. doi: 10.1016/j.gim.2024.101166. Epub 2024 May 17. Genet Med. 2024. PMID: 38767059
Tracheostomy in paediatrics.
CORNER BD. CORNER BD. Proc R Soc Med. 1959 Jun;52(6):407-8. Proc R Soc Med. 1959. PMID: 13667913 Free article. No abstract available.
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
Congenital hiatus hernia.
CORNER B, BELSEY RH. CORNER B, et al. Proc R Soc Med. 1949 Nov;42(11):913. Proc R Soc Med. 1949. PMID: 15394801 Free PMC article. No abstract available.
99 results