Safeer Ahmad
Overview
Explore the profile of Safeer Ahmad including associated specialties, affiliations and a list of published articles.
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13
Citations
20
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0
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Recent Articles
1.
Ahmad S, Muurinen M, Loid P, Ali M, Muzammal M, Fatima S, et al.
Bone Rep
. 2024 Nov;
22:101789.
PMID: 39540058
Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare skeletal dysplasia characterized primarily by progressive osteolysis, particularly affecting the carpal and tarsal bones, accompanied by osteoporosis. In addition, it features...
2.
Ullah F, Ali M, Ahmad S, Muzammal M, Khan S, Khan J, et al.
Nucleosides Nucleotides Nucleic Acids
. 2024 May;
:1-24.
PMID: 38718411
Usher syndrome (USH) is a genetic disorder that is characterized by sensorineural hearing loss (HL) and visual abnormality, i.e., loss of night vision and side (peripheral) vision. Usher syndrome is...
3.
Ahmad S, Ali M, Muzammal M, Khan A, Ikram M, Muurinen M, et al.
Genes (Basel)
. 2023 Apr;
14(4).
PMID: 37107627
Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits. Postaxial polydactyly (PAP) is the most common...
4.
Ahmad S, Ali M, Abbasi S, Abbas S, Ahmed I, Abbas S, et al.
Front Endocrinol (Lausanne)
. 2023 Mar;
14:1066182.
PMID: 36960394
Background: Isolated growth hormone deficiency (IGHD) is caused by a severe shortage or absence of growth hormone (GH), which results in aberrant growth and development. Patients with IGHD type IV...
5.
Ahmad S, Ali M, Muzammal M, Mir F, Khan M
Mol Genet Genomics
. 2022 Jul;
297(5):1195-1214.
PMID: 35907958
Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited abnormalities of human appendicular skeleton. The bones of appendicular...
6.
Ali M, Farid A, Ahmad S, Muzammal M, Al Mohaini M, Alsalman A, et al.
Genes (Basel)
. 2022 Apr;
13(4).
PMID: 35456478
Human DNA contains several variations, which can affect the structure and normal functioning of a protein. These variations could be single nucleotide polymorphisms (SNPs) or insertion-deletions (InDels). SNPs, as opposed...
7.
Muzammal M, Ali M, Ahmad S, Huma S, Ahmad S, Abbasi A, et al.
J Pak Med Assoc
. 2022 Jan;
71(10):2391-2396.
PMID: 34974577
Ultraviolet-sensitive syndrome is a rare skin disorder characterised by heterogeneous phenotypic spectrum of skin freckling, telangiectasia and acute sunburn. It usually has an autosomal recessive pattern. So far, only 18...
8.
Muzammal M, Ali M, Brugger B, Blatterer J, Ahmad S, Taj S, et al.
Metab Brain Dis
. 2021 Nov;
37(1):243-252.
PMID: 34719772
Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma and urine. The clinical manifestation of L2HGA...
9.
Muzammal M, Ahmad S, Ali M, Khan M
Ann Hum Genet
. 2021 Apr;
85(5):147-154.
PMID: 33881165
Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive neuro-dermal disorder. It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and...
10.
Zaman U, Naz R, Khattak N, Rehman K, Iqbal A, Ahmad S, et al.
Int J Biol Macromol
. 2020 Oct;
165(Pt A):1475-1481.
PMID: 33058972
Herein acid phosphatase isoenzyme was extracted from the C. murale seedlings. The purification was accomplished by chromatographic techniques and passing through DEAE-cellulose and Sephadex G-100 column. The specific activity of...