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Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8.
J Neurol. 2019.
PMID: 31069529
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
Hebbar M, Kanthi A, Shrikiran A, Patil S, Muranjan M, Francis F, Bhat B V, Girisha KM, Shukla A.
Hebbar M, et al.
Am J Med Genet A. 2018 Jan;176(1):156-160. doi: 10.1002/ajmg.a.38522. Epub 2017 Nov 17.
Am J Med Genet A. 2018.
PMID: 29150899
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Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM.
Shukla A, et al.
J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.
J Hum Genet. 2017.
PMID: 28356563
Free PMC article.
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A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.
Hebbar M, Kanthi A, Shukla A, Bielas S, Girisha KM.
Hebbar M, et al.
J Hum Genet. 2018 Jul;63(8):935-939. doi: 10.1038/s10038-018-0462-7. Epub 2018 Apr 25.
J Hum Genet. 2018.
PMID: 29695797
Free PMC article.
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Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.
Kanthi A, Hebbar M, Bielas SL, Girisha KM, Shukla A.
Kanthi A, et al.
Eur J Med Genet. 2019 Jun;62(6):103528. doi: 10.1016/j.ejmg.2018.08.009. Epub 2018 Aug 22.
Eur J Med Genet. 2019.
PMID: 30142437
Free PMC article.
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Guimier A, et al.
Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16.
Genet Med. 2021.
PMID: 34400813
Free PMC article.
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Guimier A, et al.
Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002.
Genet Med. 2022.
PMID: 35394429
Free article.
No abstract available.
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