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E

Ehsan Ullah

Water and Marine Sciences
H指数:23
被引数:1,997

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Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF KB-Mediated Autoinflammatory Disease with Retinal Dystrophy

ROSAH的眼科表现 (视网膜营养不良，视神经水肿，脾肿大，无汗和头痛) 综合征，一种遗传性NF KB介导的自身炎症性疾病，伴有视网膜营养不良

OPHTHALMOLOGY
IF9.5
2023-04-0110
OA
Huryn, Laryssa A.; Kozycki, Christina Torres; Serpen, Jasmine Y.; Zein, Wadih M.; Ullah, Ehsan; Iannaccone, Alessandro; Williams, Lloyd B.; Sobrin, Lucia; Brooks, Brian P.; Sen, H. Nida; Hufnagel, Robert B.; Kastner, Daniel L.; Kodati, Shilpa
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
SCIENTIFIC REPORTS
IF3.9
2020-11-1722
OAAI
Prasov, Lev; Guan, Bin; Ullah, Ehsan; Archer, Steven M.; Ayres, Bernadete M.; Besirli, Cagri G.; Wiinikka-Buesser, Laurel; Comer, Grant M.; Del Monte, Monte A.; Elner, Susan G.; Garnai, Sarah J.; Huryn, Laryssa A.; Johnson, Kayla; Kamat, Shivani S.; Lieu, Philip; Mian, Shahzad, I; Rygiel, Christine A.; Serpen, Jasmine Y.; Pawar, Hemant S.; Brooks, Brian P.; Moroi, Sayoko E.; Richards, Julia E.; Hufnagel, Robert B.
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

确认DHX38在早发性视网膜色素变性病因中的作用

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2018-09-0117
OAAI
Latif, Zahid; Chakchouk, Imen; Schrauwen, Isabelle; Lee, Kwanghyuk; Santos-Cortez, Regie Lyn P.; Abbe, Izoduwa; Acharya, Anushree; Jarral, Afeefa; Ali, Imran; Ullah, Ehsan; Khan, Muhammad Nasim; Ali, Ghazanfar; Tahir, Tufail Hussain; Bamshad, Michael J.; Nickerson, Deborah A.; Ahmad, Wasim; Ansar, Muhammad; Leal, Suzanne M.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
HUMAN GENETICS
IF3.6
2018-08-2250
OAAI
Santos-Cortez, Regie Lyn P.; Khan, Valeed; Khan, Falak Sher; Mughal, Zaib-un-Nisa; Chakchouk, Imen; Lee, Kwanghyuk; Rasheed, Memoona; Hamza, Rifat; Acharya, Anushree; Ullah, Ehsan; Saqib, Muhammad Arif Nadeem; Abbe, Izoduwa; Ali, Ghazanfar; Hassan, Muhammad Jawad; Khan, Saadullah; Azeem, Zahid; Ullah, Irfan; Bamshad, Michael J.; Nickerson, Deborah A.; Schrauwen, Isabelle; Ahmad, Wasim; Ansar, Muhammad; Leal, Suzanne M.
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
SCIENTIFIC REPORTS
IF3.9
2016-10-0631
OAAI
Maria, Maleeha; Lamers, Ideke J. C.; Schmidts, Miriam; Ajmal, Muhammad; Jaffar, Sulman; Ullah, Ehsan; Mustafa, Bilal; Ahmad, Shakeel; Nazmutdinova, Katia; Hoskins, Bethan; van Wijk, Erwin; Koster-Kamphuis, Linda; Khan, Muhammad Imran; Beales, Phil L.; Cremers, Frans P. M.; Roepman, Ronald; Azam, Maleeha; Arts, Heleen H.; Qamar, Raheel
Mutation of ATF6 causes autosomal recessive achromatopsia
HUMAN GENETICS
IF3.6
2015-06-1178
OAAI
Ansar, Muhammad; Santos-Cortez, Regie Lyn P.; Saqib, Muhammad Arif Nadeem; Zulfiqar, Fareeha; Lee, Kwanghyuk; Ashraf, Naeem Mahmood; Ullah, Ehsan; Wang, Xin; Sajid, Sundus; Khan, Falak Sher; Amin-ud-Din, Muhammad; Smith, Joshua D.; Shendure, Jay; Bamshad, Michael J.; Nickerson, Deborah A.; Hameed, Abdul; Riazuddin, Saima; Ahmed, Zubair M.; Ahmad, Wasim; Leal, Suzanne M.

研究方向

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R
Robert B. Hufnagel
H 指数:33论文数:251被引数:3,461
L
Laryssa A. Huryn
H 指数:23论文数:135被引数:1,412
B
Brian P. Brooks
H 指数:31论文数:180被引数:2,666
B
Bin Guan
H 指数:34论文数:170被引数:1.0万
M
Muhammad Ansar
H 指数:32论文数:170被引数:4,382
W
Wadih M. Zein
H 指数:33论文数:204被引数:3,443
M
Muhammad Arif Nadeem Saqib
H 指数:25论文数:174被引数:5,412
S
Suzanne M. Leal
H 指数:74论文数:383被引数:3.0万
K
Kwanghyuk Lee
H 指数:21论文数:37被引数:1,597
W
Wasim Ahmad
H 指数:46论文数:357被引数:8,986