1 |
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
62
|
Spaan AN...Casanova JL
|
35587511 |
2022 |
2 |
Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome.
62
|
Chhaya N...Chan T
|
33517598 |
2021 |
3 |
Mosmo Is Required for Zebrafish Craniofacial Formation.
62
|
Camacho-Macorra C...Cardozo MJ
|
34746155 |
2021 |
4 |
Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH.
62
|
Shariati G...Abdorasuli N
|
30147883 |
2018 |
5 |
Cri du chat syndrome: a series of five cases.
62
|
Dangare HM...Srivastava VM
|
23455788 |
2012 |
6 |
Immunological aspects of 22q11.2 deletion syndrome.
62
|
Gennery AR
|
21984609 |
2012 |
7 |
Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome.
62
|
Kumar MS...Ebert BL
|
21873545 |
2011 |
8 |
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome.
62
|
Curtin J...Sharota Franzco D
|
20569021 |
2010 |
9 |
Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing.
62
|
Kramer M...Huse K
|
20138207 |
2010 |
10 |
Is there an increased familial prevalence of psychopathology in children with nonverbal learning disorders?
62
|
Antshel KM...Khan FM
|
18434288 |
2008 |
11 |
Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.
62
|
Afifi HH...Kayed HF
|
18564501 |
2008 |
12 |
Neuromotor deficits in children with the 22q11 deletion syndrome.
62
|
Sobin C...Karayiorgou M
|
16991148 |
2006 |
13 |
FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.
62
|
Yakut T...Egeli U
|
16463032 |
2006 |
14 |
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
62
|
Stoller JZ...Epstein JA
|
15703190 |
2005 |
15 |
Further delineation of the 22q13 deletion syndrome.
62
|
Lindquist SG...Brondum-Nielsen K
|
15770125 |
2005 |
16 |
Networks of attention in children with the 22q11 deletion syndrome.
62
|
Sobin C...Karayiorgou M
|
15456687 |
2004 |
17 |
Ethical challenges in infant heart transplantation: a clinical case presentation.
62
|
Johnston JK...Orr RD
|
10889700 |
1999 |
18 |
[Identification of the breakpoint-flanking markers on chromosomes 1 and 17 of a constitutional translocation T(1;17)(P36;Q12-21) in a patient with neuroblastoma].
62
|
Laureys GG
|
8571670 |
1995 |
19 |
A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome.
62
|
Goodart SA...Overhauser J
|
7896290 |
1994 |
20 |
A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report.
62
|
Pokala P...Acs G
|
7937265 |
1994 |
21 |
Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn).
62
|
Mayer UM...Bialasiewicz AA
|
2787011 |
1989 |
22 |
Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma.
62
|
Taysi K...Rohrbaugh JR
|
6982666 |
1982 |
23 |
A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution.
62
|
Orye E...Craen M
|
1261067 |
1976 |
24 |
Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r).
62
|
Brasfield DM...Finley WH
|
4736145 |
1973 |
25 |
The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome.
62
|
Guthrie RD...Smith DW
|
5129531 |
1971 |