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/vufind/Search/Results?lookfor=%22Mandal%2C+Kausik%22&type=Person&page=6
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PubPharm (158)
51
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis
enthalten in:
European journal of medical genetics
| 2021
von
Sait, H.
|
Srivastava, P.
|
Gupta, N.
| +10
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52
Rare case of dual diagnosis in consanguineous family : a case report
enthalten in:
Clinical dysmorphology
| 2021
von
Agrawal, N.
|
Mandal, K.
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53
Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome
enthalten in:
Molecular syndromology
| 2021
von
Srivastava, P.
|
Shende, S.
|
Mandal, K.
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54
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians
enthalten in:
Human mutation
| 2021
von
Kausthubham, N.
|
Shukla, A.
|
Gupta, N.
| +13
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55
Clinical and Mutation Spectra of Cockayne Syndrome in India
enthalten in:
Neurology India
| 2021
von
Narayanan, D.
|
Tuteja, M.
|
McIntyre, A.
| +6
CommentIn: Neurol India. 2021 Mar-Apr;69(2):367-368. - PMID 33904454
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56
A Rare Etiology of Hypocalcemic Seizures in Adulthood : Clues to Diagnosis from Facial Dysmorphism
enthalten in:
Neurology India
| 2021
von
Batra, N.
|
Kant, R.
|
Mandal, K.
| +1
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57
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population : The need for population based screening program
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Nilay, M.
|
Moirangthem, A.
|
Saxena, D.
| +2
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58
Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population : The need for population based screening program
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2021
von
Nilay, M.
|
Moirangthem, A.
|
Saxena, D.
| +2
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59
Genetic heterogeneity of disorders with overgrowth and intellectual disability : Experience from a center in North India
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2021
von
Moirangthem, A.
|
Mandal, K.
|
Saxena, D.
| +6
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60
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency
enthalten in:
Human mutation
| 2021
von
Deshpande, D.
|
Gupta, S.
|
Sarma, A.
| +19
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Indian journal of pediatrics
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4
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