The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

Q4

MOLECULAR GENETICS AND GENOMIC MEDICINE , vol. 7

Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation

Q3

BMJ CASE REPORTS , vol. 12

Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients with Congenital Adrenal Hyperplasia

Q1

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (ISSN: 0021972X) , vol. 104 , pp. 5065-5072

The use of high-resolution melting techniques for mutation screening of diseases caused by trinucleotide repeats expansion, with emphasis on the AR gene

Q3

MEDICAL JOURNAL OF INDONESIA (ISSN: 08531773) , vol. 28 , pp. 116-122

Clinical evaluation and mutation analysis in Indonesian autosomal dominant polycystic kidney disease

Q4

PAKISTAN JOURNAL OF MEDICAL AND HEALTH SCIENCES (ISSN: 19967195) , vol. 13 , pp. 908-913

Functional characterization of two new variants in the bone morphogenetic protein 7 prodomain in two pairs of monozygotic twins with hypospadias

Q3

JOURNAL OF THE ENDOCRINE SOCIETY , vol. 3 , pp. 814-824

Premutation Allele Combined with Caregiver Distress Factor Increase the Risk of Depression in Fragile X Carriers: Indonesia Setting

Q2

JOURNAL OF INTELLECTUAL DISABILITY - DIAGNOSIS AND TREATMENT , vol. 7 , pp. 200-208

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia

Q3

JOURNAL OF GENETIC COUNSELING (ISSN: 10597700) , vol. 27 , pp. 21-32

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

Q1

HUMAN MUTATION (ISSN: 10597794) , vol. 39 , pp. 124-139

Current practice for genetic counselling by nurses: An integrative review

Q1

INTERNATIONAL JOURNAL OF NURSING PRACTICE (ISSN: 13227114) , vol. 24