P069 The Unrelenting Ulcer
Rosario, Michelle, Williams, Emmanuelle
Published in The American journal of gastroenterology (01.12.2021)
Published in The American journal of gastroenterology (01.12.2021)
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Journal Article
c.202_204del in NUP214 causes late onset form of febrile encephalopathy
Farooqui, Sheeba, Narayanan, Dhanya Lakshmi, Mascarenhas, Selinda, Rosario, Michelle C., Nair, Karthik Vijay, Periyasamy, Radhakrishnan, Shukla, Anju
Published in American journal of medical genetics. Part A (01.05.2024)
Published in American journal of medical genetics. Part A (01.05.2024)
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Journal Article
P070 Next Generation Wearable Technology for IBD Patients: A Feasibility Study
DiJoseph, Kara, Rosario, Michelle, Hajduczok, Alex, Tinsley, Andrew
Published in The American journal of gastroenterology (01.12.2021)
Published in The American journal of gastroenterology (01.12.2021)
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Journal Article
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
Narayanan, Dhanya Lakshmi, Udyawar, Divya, Kaur, Parneet, Sharma, Suvasini, Suresh, Narayanaswamy, Nampoothiri, Sheela, do Rosario, Michelle C, Somashekar, Puneeth H, Rao, Lakshmi Priya, Kausthubham, Neethukrishna, Majethia, Purvi, Pande, Shruti, Ramesh Bhat, Y, Shrikiran, Aroor, Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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Journal Article
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities
Kaur, Parneet, Rosario, Michelle C, Hebbar, Malavika, Sharma, Suvasini, Kausthubham, Neethukrishna, Nair, Karthik, A, Shrikiran, Bhat Y, Ramesh, Lewis, Leslie Edward S, Nampoothiri, Sheela, Patil, Siddaramappa J, Suresh, Narayanaswami, Bijarnia Mahay, Sunita, Dua Puri, Ratna, Pai, Shivanand, Kaur, Anupriya, KC, Rakshith, Kamath, Nutan, Bajaj, Shruti, Kumble, Ali, Shetty, Rajesh, Shenoy, Rathika, Kamate, Mahesh, Shah, Hitesh, Muranjan, Mamta N, BL, Yatheesha, Avabratha, K Shreedhara, Subramaniam, Girish, Kadavigere, Rajagopal, Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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Journal Article
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Majethia, Purvi, Do Rosario, Michelle C., Kaur, Parneet, Karanvir, Shankar, Raagul, Sharma, Suvasini, Siddiqui, Shahyan, Shukla, Anju
Published in Annals of human genetics (01.03.2022)
Published in Annals of human genetics (01.03.2022)
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Journal Article
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family
do Rosario, Michelle C, Purushothama, Greeshma, Narayanan, Dhanya Lakshmi, Siddiqui, Shahyan, Girisha, Katta Mohan, Shukla, Anju
Published in Clinical dysmorphology (01.07.2023)
Published in Clinical dysmorphology (01.07.2023)
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Journal Article
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
do Rosario, Michelle C, Bey, Guillermo Rodriguez, Nmezi, Bruce, Liu, Fang, Oranburg, Talia, Cohen, Ana S A, Coffman, Keith A, Brown, Maya R, Kiselyov, Kirill, Waisfisz, Quinten, Flohil, Myrthe T, Siddiqui, Shahyan, Rosenfeld, Jill A, Iglesias, Alejandro, Girisha, Katta Mohan, Wolf, Nicole I, Padiath, Quasar Saleem, Shukla, Anju
Published in Brain (London, England : 1878) (19.12.2022)
Published in Brain (London, England : 1878) (19.12.2022)
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Journal Article
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination
do Rosario, Michelle C, Kaur, Parneet, Girisha, Katta Mohan, Bielas, Stephanie, Shukla, Anju
Published in Clinical dysmorphology (01.10.2022)
Published in Clinical dysmorphology (01.10.2022)
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Journal Article
Developmental delay and assessment in an infant with PCWH syndrome: A case report
Kumar, Ashna, Rosario, Michelle, Siddiqui, Shahyan, Garg, Divyani, Shukla, Anju, Sharma, Suvasini
Published in Annals of Movement Disorders (01.05.2023)
Published in Annals of Movement Disorders (01.05.2023)
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Journal Article
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
Pande, Shruti, Majethia, Purvi, Nair, Karthik, Rao, Lakshmi Priya, Mascarenhas, Selinda, Kaur, Namanpreet, do Rosario, Michelle C, Neethukrishna, Kausthubham, Chaurasia, Ankur, Hunakunti, Bhagesh, Jadhav, Nalesh, Xavier, Sruthy, Kumar, Jeevan, Bhat, Vivekananda, Bhavani, Gandham SriLakshmi, Narayanan, Dhanya Lakshmi, Yatheesha, B L, Patil, Siddaramappa J, Nampoothiri, Sheela, Kamath, Nutan, Aroor, Shrikiran, Bhat Y, Ramesh, Lewis, Leslie E, Sharma, Suvasini, Bajaj, Shruti, Sankhyan, Naveen, Siddiqui, Shahyan, Nayak, Shalini S, Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju
Published in European journal of human genetics : EJHG (20.12.2023)
Published in European journal of human genetics : EJHG (20.12.2023)
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Journal Article
Biotechnological applications of Turbinaria ornata and its endophytes
do Rosario, Michelle C., Poddar, Prativa, Reddy, Swarnkumar, Osborne, W. Jabez
Published in Research journal of pharmacy and technology (01.09.2020)
Published in Research journal of pharmacy and technology (01.09.2020)
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Journal Article
P062 Crohn's disease presenting as fever of unknown origin in a six-year-old male
Michelle, Rosario, Elimarys, Perez-Colon
Published in The American journal of gastroenterology (01.07.2019)
Published in The American journal of gastroenterology (01.07.2019)
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Journal Article
P069 The Unrelenting Ulcer
Rosario, Michelle, Williams, Emmanuelle
Published in The American journal of gastroenterology (01.12.2021)
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Published in The American journal of gastroenterology (01.12.2021)
Journal Article
S75 Drug-Induced Colitis in a Patient With Metastatic Melanoma
Jackson, Ryan C., Rosario, Michelle, Coates, Matthew, Panganiban, Ronaldo
Published in The American journal of gastroenterology (01.12.2023)
Published in The American journal of gastroenterology (01.12.2023)
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Journal Article
eP197: Further delineation of KIF21B-related neurodevelopmental disorders
Narayanan, Dhanya Lakshmi, Rosario, Michelle, Bhat, Vivekananda, Alvarez, José Rivera, Godin, Juliette, Shukla, Anju
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article