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Samia Temtamy

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3613-3614

2021

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Brachydactyly

Orphanet journal of rare diseases, 2008-06, Vol.3 (1), p.15-15, Article 15

2008

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3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Bone Research, 2021-08, Vol.9 (1), p.39-39, Article 39

2021

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Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1875-1881

2013

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Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2647-2655

2012

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A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

Human mutation, 2014-08, Vol.35 (8), p.959-963

2014

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Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy

Osteoporosis international, 2022-07, Vol.33 (7), p.1501-1510

2022

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FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Journal of medical genetics, 2018-04, Vol.55 (4), p.278-284

2018

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A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.39-45

2024

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Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1815-1825

2022

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CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2100-2112

2023

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Expanding the phenome and variome of skeletal dysplasia

Genetics in medicine, 2018-12, Vol.20 (12), p.1609-1616

2018

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Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2857-2866

2020

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Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Gene, 2017-02, Vol.600, p.48-54

2017

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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1407-1420

2020

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GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.237-242

2019

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Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Journal of children's orthopaedics, 2009-12, Vol.3 (6), p.451-458

2009

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Phenotypic and molecular insights into PQBP1‐related intellectual disability

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2446-2450

2018

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1190-1194

2018

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Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect

Metabolic brain disease, 2016-10, Vol.31 (5), p.1171-1179

2016

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Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence

Human mutation, 2008-07, Vol.29 (7), p.931-938

2008

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Anthropometric measurements in Egyptian patients with osteogenesis imperfecta

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2714-2718

2012

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Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child

Middle East Journal of Medical Genetics, 2017-07, Vol.6 (2), p.82-87

2017

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Samia Temtamy

Brachydactyly

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I

Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

Expanding the phenome and variome of skeletal dysplasia

Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Phenotypic and molecular insights into PQBP1‐related intellectual disability

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta

Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child

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