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Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. [electronic resource] by
- Valencia, C Alexander
- Ankala, Arunkanth
- Rhodenizer, Devin
- Bhide, Shruti
- Littlejohn, Martin Robert
- Keong, Lisa Mari
- Rutkowski, Anne
- Sparks, Susan
- Bonnemann, Carsten
- Hegde, Madhuri
Producer: 20130705
In:
PloS one vol. 8
Availability: No items available.
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24.
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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. [electronic resource] by
- Mandelker, Diana
- Schmidt, Ryan J
- Ankala, Arunkanth
- McDonald Gibson, Kristin
- Bowser, Mark
- Sharma, Himanshu
- Duffy, Elizabeth
- Hegde, Madhuri
- Santani, Avni
- Lebo, Matthew
- Funke, Birgit
Producer: 20170911
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
Availability: No items available.
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25.
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Detection of [electronic resource] by
- Dastur, Rashna Sam
- Gaitonde, Pradnya Satish
- Kachwala, Munira
- Nallamilli, Babi R R
- Ankala, Arunkanth
- Khadilkar, Satish V
- Atchayaram, Nalini
- Gayathri, N
- Meena, A K
- Rufibach, Laura
- Shira, Sarah
- Hegde, Madhuri
Publication details: Annals of Indian Academy of Neurology
In:
Annals of Indian Academy of Neurology vol. 20
Availability: No items available.
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26.
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Integrated database for identifying candidate genes for Aspergillus flavus resistance in maize. [electronic resource] by
- Kelley, Rowena Y
- Gresham, Cathy
- Harper, Jonathan
- Bridges, Susan M
- Warburton, Marilyn L
- Hawkins, Leigh K
- Pechanova, Olga
- Peethambaran, Bela
- Pechan, Tibor
- Luthe, Dawn S
- Mylroie, J E
- Ankala, Arunkanth
- Ozkan, Seval
- Henry, W B
- Williams, W P
Producer: 20110225
In:
BMC bioinformatics vol. 11 Suppl 6
Availability: No items available.
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27.
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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. [electronic resource] by
- Brandt, Tracy
- Sack, Laura M
- Arjona, Dolores
- Tan, Duanjun
- Mei, Hui
- Cui, Hong
- Gao, Hua
- Bean, Lora J H
- Ankala, Arunkanth
- Del Gaudio, Daniela
- Knight Johnson, Amy
- Vincent, Lisa M
- Reavey, Caitlin
- Lai, Amy
- Richard, Gabriele
- Meck, Jeanne M
Producer: 20210111
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
Availability: No items available.
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28.
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Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants. [electronic resource] by
- Brandt, Tracy
- Sack, Laura M
- Arjona, Dolores
- Tan, Duanjun
- Mei, Hui
- Cui, Hong
- Gao, Hua
- Bean, Lora J H
- Ankala, Arunkanth
- Del Gaudio, Daniela
- Johnson, Amy Knight
- Vincent, Lisa M
- Reavey, Caitlin
- Lai, Amy
- Richard, Gabriele
- Meck, Jeanne M
Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Mar 2020
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
Availability: No items available.
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29.
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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. [electronic resource] by
- Nallamilli, Babi Ramesh Reddy
- Chakravorty, Samya
- Kesari, Akanchha
- Tanner, Alice
- Ankala, Arunkanth
- Schneider, Thomas
- da Silva, Cristina
- Beadling, Randall
- Alexander, John J
- Askree, Syed Hussain
- Whitt, Zachary
- Bean, Lora
- Collins, Christin
- Khadilkar, Satish
- Gaitonde, Pradnya
- Dastur, Rashna
- Wicklund, Matthew
- Mozaffar, Tahseen
- Harms, Matthew
- Rufibach, Laura
- Mittal, Plavi
- Hegde, Madhuri
Publication details: Annals of clinical and translational neurology Dec 2018
In:
Annals of clinical and translational neurology vol. 5
Availability: No items available.
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30.
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. [electronic resource] by
- Schwarze, Ulrike
- Cundy, Tim
- Pyott, Shawna M
- Christiansen, Helena E
- Hegde, Madhuri R
- Bank, Ruud A
- Pals, Gerard
- Ankala, Arunkanth
- Conneely, Karen
- Seaver, Laurie
- Yandow, Suzanne M
- Raney, Ellen
- Babovic-Vuksanovic, Dusica
- Stoler, Joan
- Ben-Neriah, Ziva
- Segel, Reeval
- Lieberman, Sari
- Siderius, Liesbeth
- Al-Aqeel, Aida
- Hannibal, Mark
- Hudgins, Louanne
- McPherson, Elizabeth
- Clemens, Michele
- Sussman, Michael D
- Steiner, Robert D
- Mahan, John
- Smith, Rosemarie
- Anyane-Yeboa, Kwame
- Wynn, Julia
- Chong, Karen
- Uster, Tami
- Aftimos, Salim
- Sutton, V Reid
- Davis, Elaine C
- Kim, Lammy S
- Weis, Mary Ann
- Eyre, David
- Byers, Peter H
Producer: 20130515
In:
Human molecular genetics vol. 22
Availability: No items available.
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