Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1975 1
1976 1
1977 1
1978 1
1979 2
1980 1
1983 2
1984 2
1985 1
1986 3
1987 3
1988 2
1989 4
1990 2
1991 1
1992 1
1993 8
1994 2
1996 4
1997 4
1998 5
1999 2
2000 6
2001 1
2002 7
2003 6
2004 3
2005 7
2006 2
2007 5
2008 7
2009 8
2010 7
2011 11
2012 5
2013 9
2014 8
2015 4
2016 8
2017 6
2018 9
2019 4
2020 5
2021 10
2022 9
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed for id: 65991

185 results

Results by year

Filters applied: . Clear all
Page 1
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.
Jacobs A, Burns C, Patel P, Treat K, Helm BM, Conboy E, Vetrini F. Jacobs A, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006170. doi: 10.1101/mcs.a006170. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091507 Free PMC article.
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, Aouichaoui S, Abid D, Abdelhedi F, Triki C, Kamoun H, Masmoudi S. Ben Ayed I, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1811. doi: 10.1002/mgg3.1811. Epub 2021 Sep 22. Mol Genet Genomic Med. 2021. PMID: 34549899 Free PMC article.
Twin girls with hypophosphataemic rickets and papilloedema.
Migliarino V, Magnolato A, Barbi E. Migliarino V, et al. Arch Dis Child Educ Pract Ed. 2022 Apr;107(2):124-126. doi: 10.1136/archdischild-2020-319615. Epub 2020 Oct 30. Arch Dis Child Educ Pract Ed. 2022. PMID: 33127660 Free article.
Three rare disease diagnoses in one patient through exome sequencing.
Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Ferrer A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004390. doi: 10.1101/mcs.a004390. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31427378 Free PMC article.
185 results