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6 in total

1. An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Authors: Kyoko Takano; Dan Liu; Patrick Tarpey; Esther Gallant; Alex Lam; Shawn Witham; Emil Alexov; Alka Chaubey; Roger E Stevenson; Charles E Schwartz; Philip G Board; Angela F Dulhunty
Journal: Hum Mol Genet Date: 2012-07-19 Impact factor: 6.150

Review 2. The role of genetics in the establishment and maintenance of the epigenome.

Authors: Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal: Cell Mol Life Sci Date: 2013-03-10 Impact factor: 9.261

Review 3. Alpha thalassaemia-mental retardation, X linked.

Authors: Richard Gibbons
Journal: Orphanet J Rare Dis Date: 2006-05-04 Impact factor: 4.123

4. Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.

Authors: Gabriella Gazdagh; Edward S Tobias; S Faisal Ahmed; Ruth McGowan
Journal: Sex Dev Date: 2016-09-02 Impact factor: 1.824

5. Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Authors: Yan Cong; Jie Wu; Hao Wang; Ke Wu; Cui Huang; Xuejian Yang
Journal: Front Pediatr Date: 2022-04-04 Impact factor: 3.418

6. X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Authors: Fatemeh Shakarami; Mehdi Jahani; Zahra Nouri; Mohammad Amin Tabatabaiefar
Journal: Mol Genet Genomic Med Date: 2022-08-13 Impact factor: 2.473

6 in total