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Journal of pediatric genetics
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358
Papers 362
1 page of 37 pages (362 results)
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#1Seema Thakur (Fortis Healthcare)H-Index: 8
#2Manisha Kumar (Lady Hardinge Medical College)H-Index: 7
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#1Gayatri Nerakh (Nizam's Institute of Medical Sciences)H-Index: 1
#2Prajnya Ranganath (Nizam's Institute of Medical Sciences)H-Index: 9
view all 3 authors...
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#1Naiyana Boontan (Thammasat University)
#2Kitiwan Rojnueangnit (Thammasat University)H-Index: 2
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#1Paolo FontanaH-Index: 6
#2Laura Bernardini (Casa Sollievo della Sofferenza)H-Index: 24
Last. Mariateresa FalcoH-Index: 7
view all 12 authors...
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#1Brendan E. Karba (Alberta Children's Hospital)
#2Jean-Francois Lemay (Alberta Children's Hospital)H-Index: 7
Last. Scott A. McLeod (Alberta Children's Hospital)H-Index: 1
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We report on a 3-year-old girl with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring ...
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#1Chayada Tangshewinsirikul (MU: Mahidol University)H-Index: 3
#1Chayada Tangshewinsirikul (MU: Mahidol University)H-Index: 1
Last. Duangrurdee Wattanasirichaigoon (MU: Mahidol University)H-Index: 16
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#1Bruna Lixinski Diniz (UFCSPA: Universidade Federal de Ciências da Saúde de Porto Alegre)
Last. Paulo Ricardo Gazzola Zen (UFCSPA: Universidade Federal de Ciências da Saúde de Porto Alegre)H-Index: 13
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Several studies have shown that rs9939609 and rs1421085 in fat mass and obesity-associated (FTO) gene rs17782313 and rs12970134 in melanocortin-4 receptor (MC4R) gene influence obesity. In the present study, we aimed to determine association between rs9939609, rs1421085, rs17782313, and rs12970134 polymorphism, and their relation with body mass index (BMI), glucose, insulin, homeostasis model assessment of insulin resistance (HOMA-IR) and lipid values in obese children. We included 100 newly dia...
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Last. Belde Kasap Demir (Izmir Kâtip Çelebi University)H-Index: 1
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Renal–hepatic–pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3, which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3-related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C > T vari...
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