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Publications by Jain Mahim
Protein Informatics Combined With Multiple Data Sources Enriches the Clinical Characterization of Novel TRPV4 Variant Causing an Intermediate Skeletal Dysplasia
Molecular genetics & genomic medicine
Genetics
Molecular Biology
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A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization
Human Mutation
Genetics
P71 Skeletal Dysplasia- Case Report of an Infant With Thanatophoric Dysplasia
Novel Variant in the FGD1 Gene Causing Aarskog-Scott Syndrome
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Acrocapitofemoral Dysplasia: An Autosomal Recessive Skeletal Dysplasia With Cone Shaped Epiphyses in the Hands and Hips
Journal of Medical Genetics
Genetics
Towards an Ab-Initio Characterization of Novel Intermediate Band Photovoltaic Materials
2008 Conference on Optoelectronic and Microelectronic Materials and Devices
PISD Is a Mitochondrial Disease Gene Causing Skeletal Dysplasia, Cataracts, and White Matter Changes
Life Science Alliance
Plant Science
Ecology
Genetics
Molecular Biology
Biochemistry
Mutagenesis
Health
Toxicology
3. The Current Role of Skeletal Survay in Children With Suspected Skeletal Dysplasia
The Central European Journal of Paediatrics
Multiple Epiphyseal Dysplasia, With Severe Proximal Femoral Dysplasia
Characterization of a Novel Variant of Mycobacterium Chimaera
Journal of Medical Microbiology
Medicine
Microbiology
