Perspectives on urological care in spina bifida patients

Moussa M, Papatsoris AG, Abou Chakra M, Fares Y, Dabboucy B, Dellis A

Intractable Rare Dis Res. 2021; 10(1):1-10.

DOI: 10.5582/irdr.2020.03077

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Surveillance and prevalence of fragile X syndrome in Indonesia

Sihombing NRB, Winarni TI, Utari A, van Bokhoven H, Hagerman RJ, Faradz SMH

Intractable Rare Dis Res. 2021; 10(1):11-16.

DOI: 10.5582/irdr.2020.03101

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Different approaches to improve cohort identification using electronic health records: X-linked hypophosphatemia as an example

Broseta JJ

Intractable Rare Dis Res. 2021; 10(1):17-22.

DOI: 10.5582/irdr.2020.03123

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Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran

Koohiyan M, Hashemzadeh-Chaleshtori M, Tabatabaiefar MA

Intractable Rare Dis Res. 2021; 10(1):23-30.

DOI: 10.5582/irdr.2020.03090

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Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment

Hegde S, Hegde R, Kulkarni SS, Das KK, Gai PB, Bulgouda R

Intractable Rare Dis Res. 2021; 10(1):31-36.

DOI: 10.5582/irdr.2020.03157

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Clinical correlation and antimicrobial susceptibility pattern of Chryseobacterium spp.: A three year prospective study

Yadav VS, Das BK, Mohapatra S, Ahmed MN, Gautam H, Kapil A, Sood S, Dhawan B, Chaudhry R

Intractable Rare Dis Res. 2021; 10(1):37-41.

DOI: 10.5582/irdr.2020.03085

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Cut-off value of C1-inhibitor function for the diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Honda D, Ohsawa I, Mano S, Rinno H, Tomino Y, Suzuki Y

Intractable Rare Dis Res. 2021; 10(1):42-47.

DOI: 10.5582/irdr.2020.03099

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Tetraploid acute promyelocytic leukemia with double translocation t (15,17) PML/RARA: the first case report in Croatia and Europe

Periša V, Laslo D, Franić-Šimić I, Sinčić-Petričević J

Intractable Rare Dis Res. 2021; 10(1):48-51.

DOI: 10.5582/irdr.2020.03146

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A rare challenge in general surgery: double surgical procedure for large and small bowel obstruction in a patient with Gerstmann- Sträussler-Scheinker syndrome

Costanzi A, Monteleone M, Berardi V, Miranda A, Mari G, Maggioni D

Intractable Rare Dis Res. 2021; 10(1):52-54.

DOI: 10.5582/irdr.2020.03116

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A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India

Dayal D, Gupta S, Kumar R, Srinivasan R, Lorenz-Depiereux B, Strom TM

Intractable Rare Dis Res. 2021; 10(1):55-57.

DOI: 10.5582/irdr.2020.03084

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Pre-Paget cells express a Paget cell marker before losing a keratinocyte marker

Smith AA

Intractable Rare Dis Res. 2021; 10(1):58-59.

DOI: 10.5582/irdr.2020.03086

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Establishing a rare diseases center: Experiences from Western China

Gong L, He Q

Intractable Rare Dis Res. 2021; 10(1):60-61.

DOI: 10.5582/irdr.2020.03091

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