E-LIB Suche - Ergebnisse für: Kabra, Madhulika

1

The Great Masquerade: Varying Manifestations of Lysinuric P..:

Chakraborty, Soumalya ; Kaur, Ravneet ; Patra, Bijoy...
Indian Journal of Pediatrics. , 2024

Link: https://doi.org/10.1007/..

2

Hematopoietic Stem Cell Transplantation for Storage Disorde..:

Chakraborty, Soumalya ; Gupta, Aditya Kumar ; Gupta, Neerja...
Indian Journal of Pediatrics. , 2024

Link: https://doi.org/10.1007/..

3

Whole genome sequencing followed by functional analysis of ..:

Sabharwal, Ankit ; Gupta, Vishu ; KV, Shamsudheen...
Mitochondrion. 75 (2024) - p. 101844 , 2024

Link: https://doi.org/10.1016/..

4

Split‐hand/foot malformation 3 resulting from microduplicat..:

Langeh, Nitika ; Ansari, Mohammed Tahir ; Kabra, Madhulika.
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

Link: https://doi.org/10.1002/..

5

Pattern of CYP3A5 and MDR-1 single-nucleotide polymorphism ..:

Sangha, Sukhwinder Singh ; Yadav, Sushma ; Yadav, Raj Kanwar...
RPS Pharmacy and Pharmacology Reports. 3 (2024) 2 - p. , 2024

Link: https://doi.org/10.1093/..

6

ECEL1 related distal arthrogryposis 5D in an Indian cohort—..:

Endrakanti, Mounika ; Sharma, Jyoti ; Ethayathulla, Abdul S....
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024

Link: https://doi.org/10.1002/..

7

Unexplained Intellectual Disability: Diagnostic Workflow Mo..:

Gupta, Neerja ; Kabra, Madhulika
Indian Journal of Pediatrics. 91 (2024) 7 - p. 653-654 , 2024

Link: https://doi.org/10.1007/..

8

P185: Phenotypic and genotypic spectrum of arthrogryposis m..:

Endrakanti, Mounika ; Sharma, Jyoti ; Chand Sharma, Mehar...
Genetics in Medicine Open. 1 (2023) 1 - p. 100214 , 2023

Link: https://doi.org/10.1016/..

9

The spectrum of neurological manifestations and genotype–ph..:

Venkatachari, Mahesh ; Chakraborty, Soumalya ; Correa, Alec Reginald Errol...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1038-1043 , 2023

Link: https://doi.org/10.1002/..

10

Impact of Structured Reporting of Skeletal Survey in Skelet..:

Gupta, Amit ; Gupta, Neerja ; Kabra, Madhulika...
Indian Journal of Radiology and Imaging. 33 (2023) 2 - p. 144-149 , 2023

Link: https://doi.org/10.1055/..

11

Clinical and Molecular Spectrum of Patients with Methylmalo..:

Gupta, Neerja ; Endrakanti, Mounika ; Bhat, Meenakshi...
Indian Journal of Pediatrics. 91 (2023) 7 - p. 675-681 , 2023

Link: https://doi.org/10.1007/..

12

Mutation spectrum and enzyme profiling of G6PD deficiency i..:

Bhattacharyya, Upasana ; Deswal, Preeti ; Polipalli, Sunil Kumar...
Journal of Genetics. 102 (2023) 2 - p. , 2023

Link: https://doi.org/10.1007/..

13

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review:

S., Dheeksha D. ; Chandola, Stuti ; Jain, Aayush...
Indian Journal of Radiology and Imaging. 34 (2023) 2 - p. 291-308 , 2023

Link: https://doi.org/10.1055/..

14

Wilson Disease—Genomic Complexities Yet to Be Unveiled!:

Endrakanti, Mounika ; Kabra, Madhulika ; Gupta, Neerja
Indian Journal of Pediatrics. 90 (2023) 3 - p. 219-219 , 2023

Link: https://doi.org/10.1007/..

15

Phylogeny and evolution of SARS-CoV-2 during Delta and Omic..:

Singh, Urvashi B. ; Deb, Sushanta ; Rani, Lata...
Journal of Biomolecular Structure and Dynamics. 42 (2023) 9 - p. 4769-4781 , 2023

Link: https://doi.org/10.1080/..