| no |
title |
author |
magazine |
year |
volume |
issue |
page(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
|
article
|
| 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
|
article
|
| 3 |
A novel familial truncating mutation in the filamin C gene associated with cardiac arrhythmias
|
Mangum, Kevin D.
|
|
2019
|
62 |
4 |
p. 282-285
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 8 |
Editorial Board
|
|
|
2019
|
62 |
4 |
p. ii
|
article
|
| 9 |
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3
|
Zapata-Aldana, Eugenio
|
|
2019
|
62 |
4 |
p. 273-277
|
article
|
| 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
|
article
|
| 11 |
PRRT2-related phenotypes in patients with a 16p11.2 deletion
|
Vlaskamp, Danique R.M.
|
|
2019
|
62 |
4 |
p. 265-269
|
article
|
| 12 |
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases
|
Saskin, Avi
|
|
2019
|
62 |
4 |
p. 254-258
|
article
|
| 13 |
Severe gynaecological involvement in Proteus Syndrome
|
Severino-Freire, Maella
|
|
2019
|
62 |
4 |
p. 270-272
|
article
|
Journal description