日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

TOLLIP and MUC5B single nucleotide polymorphisms among interstitial lung disease patients from Western India

印度西部间质性肺病患者的TOLLIP和MUC5B单核苷酸多态性

Athavale, Tanya; Athavale, Amita; Samant, Trisha; Neman, Namrata; Khatri, Ridi; Jaiswal, Pooja; Dabholkar, Kunal; Dhangar, Somprakash; Priya, Anshu; Madkaikar, Manisha; Pradhan, Vandana

Variant Klinefelter Syndrome With Xq Trisomy (47,X,i(X)(q10),Y): A Case Report and Review of the Literature

伴有Xq三体(47,X,i(X)(q10),Y)的变异型克氏综合征:病例报告及文献综述

Ghatanatti, Jagadeeshwar; Dhangar, Somprakash; Vundinti, Babu Rao

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development

全面的分子分析在患有性发育障碍的XY女性中发现了8个新的变异。

Kulkarni, Vinayak; Chellasamy, Selvaa Kumar; Dhangar, Somprakash; Ghatanatti, Jagdeeshwar; Vundinti, Babu Rao

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes

预测骨髓增生异常综合征总体生存率的遗传因素综合分析

Nehakumari Maurya, Purvi Mohanty, Somprakash Dhangar, Purvi Panchal, Farah Jijina, S Leo Prince Mathan, Chandrakala Shanmukhaiah, Manisha Madkaikar, Babu Rao Vundinti

Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

TYR 基因外显子 3 的新缺失导致印度一家人患上眼皮肤白化病 1B,同时还伴有与染色体拷贝数变异相关的智力障碍

Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah, Babu Rao Vundinti

Correction to: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

更正:印度某家族中TYR基因第3外显子的新缺失导致眼皮肤白化病1B型,并伴有与染色体拷贝数变异相关的智力障碍

Dhangar, Somprakash; Panchal, Purvi; Ghatanatti, Jagdeeshwar; Suralkar, Jitendra; Shah, Anjali; Vundinti, Babu Rao

array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants.

阵列比较基因组杂交(array-CGH)显示,在 49,XXXXY 核型中 Yp11.2 有扩增,在 48,XXYY 核型中 Xp22.33 有扩增,这是两种罕见的克氏综合征变异体

Dhangar Somprakash, Ghatanatti Jagdeeshwar, Vundinti Babu Rao

Chromosomal Aberrations in Primary Amenorrhea: A Retrospective Study

原发性闭经的染色体畸变:一项回顾性研究

Korgaonkar, Seema; Dhangar, Somprakash; Kulkarni, Vinayak; Kerketta, Lily; Vundinti, Babu Rao