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                             13 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation Abiramalatha, Thangaraj
2019
62 4 p. 248-253
artikel
2 A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2) El-Bazzal, Lara
2019
62 4 p. 259-264
artikel
3 A novel familial truncating mutation in the filamin C gene associated with cardiac arrhythmias Mangum, Kevin D.
2019
62 4 p. 282-285
artikel
4 A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction Ullah, Asmat
2019
62 4 p. 278-281
artikel
5 Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation Aarabi, Mahmoud
2019
62 4 p. 239-242
artikel
6 c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease Karp, Natalya
2019
62 4 p. 235-238
artikel
7 Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1 Schirwani, Schaida
2019
62 4 p. 243-247
artikel
8 Editorial Board 2019
62 4 p. ii
artikel
9 Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3 Zapata-Aldana, Eugenio
2019
62 4 p. 273-277
artikel
10 Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant Virtanen, Valtter B.
2019
62 4 p. 229-234
artikel
11 PRRT2-related phenotypes in patients with a 16p11.2 deletion Vlaskamp, Danique R.M.
2019
62 4 p. 265-269
artikel
12 Renal tubular dysgenesis and microcolon, a novel association. Report of three cases Saskin, Avi
2019
62 4 p. 254-258
artikel
13 Severe gynaecological involvement in Proteus Syndrome Severino-Freire, Maella
2019
62 4 p. 270-272
artikel
                             13 gevonden resultaten
 
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