Among his myriad scientific and artistic contributions, Leonardo da Vinci's work in embryology was groundbreaking. He observed and diagramed the previously undemonstrated position of the fetus in the womb with detailed accompanying annotations of his observations. Leonardo was highly paranoid of plagiarism and wrote all of his notes in mirror-like handwriting laden with his own codes, making his writing difficult to discern and delaying its impact. Although he carried out his studies in embryology from 1510-1512, it was not until the 1900s that his work was popularized among the scientific community. Leonardo's embryological annotations found in the third volume of his private notebooks represent his notable contributions to and explanations of human development and embryology.

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease. Gaucher's disease, described by the French dermatologist Philippe Gaucher in 1882, is a lipid storage disorder resulting in an excessive accumulation of lipids in the spleen, kidneys, liver, lungs, bone marrow, and brain. Niemann was able to connect the infant's disease to Gaucher's disease because it displayed similar symptoms: a noticeable accumulation of fatty substances in the brain, liver, and spleen.

Historically the exact age of human embryo specimens has long perplexed embryologists. With the menstrual history of the mother often unknown or not exact, and the premenstrual and postmenstrual phases varying considerably among women, age sometimes came down to a best guess based on the weight and size of the embryo. Wilhelm His was one of the first to write comparative descriptions of human embryos in the late 1800s. Soon afterward, Franklin P. Mall, the first director of the Carnegie Institution of Washington's (CIW) Department of Embryology, expanded upon His' work. Mall's first efforts were to place embryos into stages based on menstrual ages and body length. This method ran into problems however when it became apparent that obtaining menstrual ages was often impossible or simply too inaccurate even if the information could be obtained from the women who carried the embryos. Mall decided instead to look for patterns among embryos to come up with some type of staging system whereby embryo age could be more accurately determined.

Tooth enamel contains relics of its formation process, in the form of microstructures, which indicate the incremental way in which it forms. These microstructures, called cross-striations and striae of Retzius, develop as enamel-forming cells called ameloblasts, whcih cyclically deposit enamel on developing teeth in accordance with two different biological clocks. Cross-striations result from a twenty-four hour cycle, called a Circadian rhythm, in the enamel deposition process, while striae of Retzius have a longer periodicity. Unlike other tissues, enamel does not remodel after it forms, leaving those microstructures intact after deposition. Cross-striations and striae of Retzius thus provide evidence of the timing and processes of tooth development, and they indicate how organisms in a lineage differently grow and develop across generations. Researchers have examined those microstructures to investigate human evolution.