Literature DB >> 27211610

Reverse phenotyping comes of age.

Vera Uliana1, Antonio Percesepe2.   

Abstract

Keywords:  CNV; ID adults; Reverse phenotyping

Mesh：

Year:  2016        PMID： 27211610     DOI： 10.1016/j.ymgme.2016.05.010

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  4 in total

1.  Genomewide association study for C-reactive protein in Indians replicates known associations of common variants.

Authors:  Gauri Prasad; Anil K Giri; Analabha Basu; Nikhil Tandon; Dwaipayan Bharadwaj
Journal:  J Genet       Date:  2019-03       Impact factor: 1.166

2.  Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Authors:  Karin Weiss; Kristen Wigby; Madeleine Fannemel; Lindsay B Henderson; Natalie Beck; Neeti Ghali; D D D Study; Britt-Marie Anderlid; Johanna Lundin; Ada Hamosh; Marilyn C Jones; Sondhya Ghedia; Maximilian Muenke; Paul Kruszka
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

3.  Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome.

Authors:  Jisun Park; Dong Jun Ha; Go Hun Seo; Seri Maeng; Sung Mo Kang; Sujin Kim; Ji Eun Lee
Journal:  J Korean Med Sci       Date:  2021-05-10       Impact factor: 2.153

4.  TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Authors:  Luciana Musante; Flavio Faletra; Kolja Meier; Hoda Tomoum; Paria Najarzadeh Torbati; Edward Blair; Sally North; Jutta Gärtner; Susann Diegmann; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Ehsan Ghayoor Karimiani; David Murphy; Flora Maria Murru; Caterina Zanus; Andrea Magnolato; Martina La Bianca; Agnese Feresin; Giorgia Girotto; Paolo Gasparini; Paola Costa; Marco Carrozzi
Journal:  Am J Med Genet A       Date:  2022-06-07       Impact factor: 2.578
  4 in total

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