Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations
Giardino, Giuliana, Sharapova, Svetlana O., Ciznar, Peter, Dhalla, Fatima, Maragliano, Luca, Radha Rama Devi, Akella, Islamoglu, Candan, Ikinciogullari, Aydan, Haskologlu, Sule, Dogu, Figen, Hanna-Wakim, Rima, Dbaibo, Ghassan, Chou, Janet, Cirillo, Emilia, Borzacchiello, Carla, Kreins, Alexandra Y., Worth, Austen, Rota, Ioanna A., Marques, José G., Sayitoglu, Muge, Firtina, Sinem, Mahdi, Moaffaq, Geha, Raif, Neven, Bénédicte, Sousa, Ana E., Benfenati, Fabio, Hollander, Georg A., Davies, E. Graham, Pignata, Claudio
Published in Journal of clinical immunology (01.05.2021)
Published in Journal of clinical immunology (01.05.2021)
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Journal Article
Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders
Shaik Mohammad, Naushad, Sai Shruti, P, Bharathi, Venkat, Krishna Prasad, Chintakindi, Hussain, Tajamul, Alrokayan, Salman A, Naik, Usha, Radha Rama Devi, Akella
Published in Psychiatric genetics (01.12.2016)
Published in Psychiatric genetics (01.12.2016)
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Journal Article
Neuro-fuzzy model of homocysteine metabolism
Naushad, Shaik Mohammad, Radha Rama Devi, Akella, Nivetha, Sriraman, Lakshmitha, Ganapathy, Stanley, Alex Balraj, Hussain, Tajamul, Kutala, Vijay Kumar
Published in Journal of genetics (01.12.2017)
Published in Journal of genetics (01.12.2017)
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Journal Article
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
Radha Rama Devi, Akella, Naushad, Shaik Mohammad, Lingappa, Lokesh
Published in Pediatric neurology (01.05.2020)
Published in Pediatric neurology (01.05.2020)
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Journal Article
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
Nampoothiri, Sheela, Yesodharan, Dhanya, Bhattacherjee, Amrita, Ahamed, Hisham, Puri, Ratna Dua, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Bhat, Meenakshi, Phadke, Shubha, Radha Rama Devi, Akella, Jagadeesh, Sujatha, Danda, Sumita, Sylaja, Padmavathy Narayana, Mandal, Kausik, Bijarnia‐Mahay, Sunita, Makkar, Ravinder, Verma, Ishwar Chander, Dalal, Ashwin, Ramaswami, Uma
Published in JIMD reports (01.11.2020)
Published in JIMD reports (01.11.2020)
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Journal Article
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
Radha Rama Devi, Akella, Panday, Nagesh Narayan, Naushad, Shaik Mohammad
Published in Gene (05.09.2017)
Published in Gene (05.09.2017)
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Journal Article
Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India
Sahai, Inderneel, Zytkowicz, Thomas, Rao Kotthuri, Srimannarayna, Lakshmi Kotthuri, Anantha, Eaton, Roger B., Akella, Radha Rama Devi
Published in Indian journal of pediatrics (01.08.2011)
Published in Indian journal of pediatrics (01.08.2011)
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Journal Article
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Sang, Liyun, Miller, Julie J., Corbit, Kevin C., Giles, Rachel H., Brauer, Matthew J., Otto, Edgar A., Baye, Lisa M., Wen, Xiaohui, Scales, Suzie J., Kwong, Mandy, Huntzicker, Erik G., Sfakianos, Mindan K., Sandoval, Wendy, Bazan, J. Fernando, Kulkarni, Priya, Garcia-Gonzalo, Francesc R., Seol, Allen D., O'Toole, John F., Held, Susanne, Reutter, Heiko M., Lane, William S., Rafiq, Muhammad Arshad, Noor, Abdul, Ansar, Muhammad, Devi, Akella Radha Rama, Sheffield, Val C., Slusarski, Diane C., Vincent, John B., Doherty, Daniel A., Hildebrandt, Friedhelm, Reiter, Jeremy F., Jackson, Peter K.
Published in Cell (13.05.2011)
Published in Cell (13.05.2011)
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Journal Article
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India
Passi, Gouri Rao, Pandey, Swati, Devi, Akella Radha Rama, Konanki, Ramesh, Jain, Abhishek Ravindra, Bhatnagar, Shweta, Tripathi, Ruchi, Jain, Vivek
Published in Brain & development (Tokyo. 1979) (01.04.2022)
Published in Brain & development (Tokyo. 1979) (01.04.2022)
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Journal Article
Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis
Konanki, Ramesh, Akella, Radha Rama Devi, Panigrahy, Nalinikanta, Chirla, Dinesh Kumar, Mohanlal, Smilu, Lankala, Reena
Published in Brain & development (Tokyo. 1979) (01.08.2020)
Published in Brain & development (Tokyo. 1979) (01.08.2020)
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Journal Article
Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism
Kollati, Yedukondalu, Akella, Radha Rama Devi, Naushad, Shaik Mohammad, Borkar, Divya, Thalla, Maunika, Nagalingam, Swapna, Lingappa, Lokesh, Patel, Rajesh K., Reddy, G. Bhanuprakash, Dirisala, Vijaya R.
Published in Molecular biology reports (01.10.2020)
Published in Molecular biology reports (01.10.2020)
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Journal Article
Association of parental hyperhomocysteinemia and C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss
Govindaiah, Vinukonda, Naushad, Shaik Mohammad, Prabhakara, Krishnamurthy, Krishna, Prasad Chintakindi, Radha Rama Devi, Akella
Published in Clinical biochemistry (01.03.2009)
Published in Clinical biochemistry (01.03.2009)
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Journal Article