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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jun 1, 2023. (Total: 217488Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Amelogenesis Imperfecta[original query]
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
European journal of human genetics : EJHG 2016 Jun .
Smith Claire E L, Poulter James A, Levin Alex V, Capasso Jenina E, Price Susan, Ben-Yosef Tamar, Sharony Reuven, Newman William G, Shore Roger C, Brookes Steven J, Mighell Alan J, Inglehearn Chris
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Human genetics 2018 7 137 (9): 689-703.
Du Renqian, Dinckan Nuriye, Song Xiaofei, Coban-Akdemir Zeynep, Jhangiani Shalini N, Guven Yeliz, Aktoren Oya, Kayserili Hulya, Petty Lauren E, Muzny Donna M, Below Jennifer E, Boerwinkle Eric, Wu Nan, Gibbs Richard A, Posey Jennifer E, Lupski James R, Letra Ariadne, Uyguner Z O
Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.
Orthodontics & craniofacial research 2019 5 22 Suppl 1 49-55.
Farrow Emily, Rengasamy Venugopalan Shankar, Thiffault Isabelle, Saunders Car
Computational approach towards identification of pathogenic missense mutations in AMELX gene and their possible association with amelogenesis imperfecta.
Molecular biology research communications 2020 8 9 (2): 63-69.
Shivani Narendra, Smiline-Girija Aseervatham Selvi, Paramasivam Arumugam, Vijayashree-Priyadharsini Jayaseel
Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.
American journal of medical genetics. Part A 2020 5 182 (8): 1944-1946.
Kaur Ravneet, Siddiqui Ishrat, Mathur Vijay, Jana Manisha, Kabra Madhulika, Gupta Neer
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
American journal of medical genetics. Part A 2020 2 182 (3): 493-497.
Prasov Lev, Ullah Ehsan, Turriff Amy E, Warner Blake M, Conley Julie, Mark Paul R, Hufnagel Robert B, Huryn Laryssa
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