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

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

2,798 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP. Soh Z, et al. Among authors: martin h. Am J Med Genet A. 2024 Apr;194(4):e63480. doi: 10.1002/ajmg.a.63480. Epub 2023 Nov 19. Am J Med Genet A. 2024. PMID: 37982325
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. Willatt L, et al. Among authors: martin h. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918153 Free PMC article.
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: martin h. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
STOPLIGHT: A Hit Scoring Calculator.
Wellnitz J, Martin HJ, Anwar Hossain M, Rath M, Fox C, Popov KI, Willson TM, Muratov EN, Tropsha A. Wellnitz J, et al. Among authors: martin hj. J Chem Inf Model. 2024 May 20. doi: 10.1021/acs.jcim.4c00412. Online ahead of print. J Chem Inf Model. 2024. PMID: 38768560
Peripapillary Hyper-Reflective Ovoid Mass-like Structures in Stickler syndrome.
Khatib TZ, Safi A, Nixon TRW, Georgoulas S, Montesano G, Martin H, Richards AJ, McNinch A, Poulson AV, Alexander P, Snead MP. Khatib TZ, et al. Among authors: martin h. Ophthalmol Retina. 2024 May 13:S2468-6530(24)00235-5. doi: 10.1016/j.oret.2024.05.008. Online ahead of print. Ophthalmol Retina. 2024. PMID: 38750936 Free article.
2,798 results