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Human Genetics|April 24, 2003
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activityCan Schell-Apacik, Mariel Rivero, Jessica L Knepper, et al.Anatomical Record (Hoboken, N.J. : 2007)|April 18, 2018
Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human EmbryosYu Abe, Paul Kruszka, Ariel F Martinez, et al.American Journal of Medical Genetics. Part A|May 30, 2019
Tuberous sclerosis in a patient from NigeriaEkanem N Ekure, Yonit A Addissie, Ogochukwu Jidechukwu Sokunbi, et al.Human Genetics|September 15, 2004
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosisClaude Bendavid, Robert Kleta, Robert Long, et al.Pediatrics|October 3, 2007
Adverse birth outcome among mothers with low serum cholesterolRobin J Edison, Kate Berg, Alan Remaley, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
The 2019 medical genetics workforce: A focus on laboratory geneticistsDeborah R Maiese, Megan Lyon, Honey V Reddi, et al.American Journal of Obstetrics and Gynecology|December 17, 2008
The clinical content of preconception care: genetics and genomicsBenjamin D Solomon, Brian W Jack, W Gregory FeeroImmunological Reviews|April 10, 2014
T-cell selection and intestinal homeostasisTeresa L Ai, Benjamin D Solomon, Chyi-Song HsiehAmerican Journal of Human Genetics|August 2, 2011
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptorsGyu-Un Bae, Sabina Domené, Erich Roessler, et al.The Journal of Clinical Endocrinology and Metabolism|March 22, 2017
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn ScreeningDavid R Murdock, Frank X Donovan, Settara C Chandrasekharappa, et al.Pageof 29