Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 3 of 3 entries
Sorted by: Best Match Show Resources per page
[Contribution of neuropathology to the understanding of mental retardation].

Revue medicale de la Suisse romande

Rabinowicz T.
PMID: 644163
Rev Med Suisse Romande. 1978 Feb;98(2):89-93.

No abstract available.

Cite
Rabinowicz T. Contribution de la neuropathologie à la compréhension de la déficience mentale. [Contribution of neuropathology to the understanding of mental retardation]. Rev Med Suisse Romande. 1978;98(2):89-93
Rabinowicz, T. (1978). Contribution de la neuropathologie à la compréhension de la déficience mentale. [Contribution of neuropathology to the understanding of mental retardation]. Revue medicale de la Suisse romande, 98(2), 89-93.
Rabinowicz, T. "Contribution de la neuropathologie à la compréhension de la déficience mentale." [Contribution of neuropathology to the understanding of mental retardation]. Revue medicale de la Suisse romande vol. 98,2 (1978): 89-93.
Rabinowicz T. Contribution de la neuropathologie à la compréhension de la déficience mentale. [Contribution of neuropathology to the understanding of mental retardation]. Rev Med Suisse Romande. 1978 Feb;98(2):89-93. French. PMID: 644163.
Copy Download .nbib Format: NLM
A syndrome with coarse face, mental retardation and unusual stereotyped movements*.

Neuropediatrics

Pavone P, Trifiletti RR, Parano E, Fichera M, Ruggieri M.
PMID: 20146175
Neuropediatrics. 2009 Aug;40(4):186-8. doi: 10.1055/s-0029-1243613. Epub 2010 Feb 09.

We describe a mentally retarded 24-year-old man followed by our group since age 18 months who exhibited nearly continuous stereotypic movements while awake. These movements, which have persisted over many years, consist of synchronous lateral flexion at the neck...

Cite
Pavone P, Trifiletti RR, Parano E, et al. A syndrome with coarse face, mental retardation and unusual stereotyped movements*. Neuropediatrics. 2010;40(4):186-8doi: 10.1055/s-0029-1243613.
Pavone, P., Trifiletti, R. R., Parano, E., Fichera, M., & Ruggieri, M. (2009). A syndrome with coarse face, mental retardation and unusual stereotyped movements*. Neuropediatrics, 40(4), 186-8. https://doi.org/10.1055/s-0029-1243613
Pavone, P, et al. "A syndrome with coarse face, mental retardation and unusual stereotyped movements*." Neuropediatrics vol. 40,4 (2009): 186-8. doi: https://doi.org/10.1055/s-0029-1243613
Pavone P, Trifiletti RR, Parano E, Fichera M, Ruggieri M. A syndrome with coarse face, mental retardation and unusual stereotyped movements*. Neuropediatrics. 2009 Aug;40(4):186-8. doi: 10.1055/s-0029-1243613. Epub 2010 Feb 09. PMID: 20146175.
Copy Download .nbib Format: NLM
R3HDM1 haploinsufficiency is associated with mild intellectual disability.

American journal of medical genetics. Part A

Fukushi D, Inaba M, Katoh K, Suzuki Y, Enokido Y, Nomura N, Tokita Y, Hayashi S, Mizuno S, Yamada K, Wakamatsu N.
PMID: 33750005
Am J Med Genet A. 2021 Jun;185(6):1776-1786. doi: 10.1002/ajmg.a.62173. Epub 2021 Mar 22.

R3HDM1 (R3H domain containing 1) is an uncharacterized RNA-binding protein that is highly expressed in the human cerebral cortex. We report the first case of a 12-year-old Japanese male with haploinsufficiency of R3HDM1. He presented with mild intellectual disability...

Cite
Fukushi D, Inaba M, Katoh K, et al. R3HDM1 haploinsufficiency is associated with mild intellectual disability. Am J Med Genet A. 2021;185(6):1776-1786doi: 10.1002/ajmg.a.62173.
Fukushi, D., Inaba, M., Katoh, K., Suzuki, Y., Enokido, Y., Nomura, N., Tokita, Y., Hayashi, S., Mizuno, S., Yamada, K., & Wakamatsu, N. (2021). R3HDM1 haploinsufficiency is associated with mild intellectual disability. American journal of medical genetics. Part A, 185(6), 1776-1786. https://doi.org/10.1002/ajmg.a.62173
Fukushi, Daisuke, et al. "R3HDM1 haploinsufficiency is associated with mild intellectual disability." American journal of medical genetics. Part A vol. 185,6 (2021): 1776-1786. doi: https://doi.org/10.1002/ajmg.a.62173
Fukushi D, Inaba M, Katoh K, Suzuki Y, Enokido Y, Nomura N, Tokita Y, Hayashi S, Mizuno S, Yamada K, Wakamatsu N. R3HDM1 haploinsufficiency is associated with mild intellectual disability. Am J Med Genet A. 2021 Jun;185(6):1776-1786. doi: 10.1002/ajmg.a.62173. Epub 2021 Mar 22. PMID: 33750005.
Copy Download .nbib Format: NLM
Showing 1 to 3 of 3 entries