1 |
Wiedemann-Steiner Syndrome: Case Report and Review of Literature.
62
|
Yu H...Wu W
|
36291481 |
2022 |
2 |
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
62
|
Simmers R...Couser N
|
35762114 |
2022 |
3 |
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
62
|
Sofronova V...Otomo T
|
35879281 |
2022 |
4 |
Wiedemann-Steiner Syndrome
62
|
Sheppard SE...Quintero-Rivera F
|
35617449 |
2022 |
5 |
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
62
|
Hutchison DM...Mesinkovska NA
|
34919300 |
2022 |
6 |
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
62
|
Doddato G...Ariani F
|
35456494 |
2022 |
7 |
Lady with Long Eyelashes…!
62
|
Inamadar SS...Kumar NSP
|
35531491 |
2022 |
8 |
Ocular manifestations of Nabais Sa-de Vries Syndrome type 1.
62
|
Zhang L...Couser NL
|
35892095 |
2022 |
9 |
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
62
|
Lee Y...Lee BH
|
34706719 |
2021 |
10 |
[Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene].
62
|
Chen W...Zhou H
|
34247377 |
2021 |
11 |
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
62
|
Elalaoui SC...Sefiani A
|
34795756 |
2021 |
12 |
Lower Eyelid Horizontal Tightening in Prostaglandin Associated Periorbitopathy.
62
|
Procianoy F...J L Bocaccio F
|
32890116 |
2021 |
13 |
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
62
|
Haberlandt E...Janecke AR
|
33471954 |
2021 |
14 |
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature.
62
|
Ercoskun P...Yuce-Kahraman C
|
33776628 |
2021 |
15 |
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.
62
|
Demir S...Atli E
|
33776627 |
2021 |
16 |
A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.
62
|
Li R...Zhu H
|
34659104 |
2021 |
17 |
Floating-Harbor Syndrome: A Rare Case Report.
62
|
Singana T...Sankriti AM
|
33623349 |
2020 |
18 |
Evaluating distribution and variation of strains near eyes in blinking using digital image correlation.
62
|
Sakai K...Igarashi T
|
32207543 |
2020 |
19 |
A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome.
62
|
Rodriguez P...Asturias K
|
32328333 |
2020 |
20 |
[Floating-Harbor syndrome: a case report and literature review].
62
|
Li RM...Sang YM
|
31874661 |
2019 |
21 |
Clinical and molecular spectrum of CHOPS syndrome.
62
|
Raible SE...Izumi K
|
31058441 |
2019 |
22 |
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
62
|
van der Sluijs PJ...Santen GWE
|
30349098 |
2019 |
23 |
Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome.
62
|
Kim WJ
|
31620628 |
2019 |
24 |
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
62
|
Li M...Jin D
|
30587846 |
2019 |
25 |
Ophthalmologic findings in the Cornelia de Lange syndrome.
62
|
Shi A...Levin AV
|
30767692 |
2019 |
26 |
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study.
62
|
Singh M...Pawar M
|
29675643 |
2018 |
27 |
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
62
|
Kim YM...Lee BH
|
29235540 |
2018 |
28 |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
62
|
Sun Y...Yu Y
|
27759909 |
2017 |
29 |
Minor physical anomalies in neurodevelopmental disorders: a twin study.
62
|
Myers L...Bolte S
|
29209412 |
2017 |
30 |
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.
62
|
Vahabi A...Rad IA
|
28878839 |
2017 |
31 |
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
62
|
Aharoni S...Crosby AH
|
27852232 |
2016 |
32 |
Clicking Eyelids: A New Finding of Prostaglandin-Associated Periorbitopathy.
62
|
Skorin L...Dailey KH
|
27055061 |
2016 |
33 |
[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America].
62
|
Ruiz Botero F...Isaza de Lourido C
|
26914082 |
2016 |
34 |
Eyelashes divert airflow to protect the eye.
62
|
Amador GJ...Hu DL
|
25716186 |
2015 |
35 |
Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation.
62
|
Sheng X...Liu Y
|
23952657 |
2015 |
36 |
Ocular side effects and trichomegaly of eyelashes induced by erlotinib: a case report and review of the literature.
62
|
Celik T...Kosker M
|
25249292 |
2015 |
37 |
The deletion 22q13 syndrome: a new case.
62
|
Karaman A...Goksu K
|
26043508 |
2015 |
38 |
De novo 393Â kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.
62
|
Varvagiannis K...Manolakos E
|
25606410 |
2014 |
39 |
PNPLA6 Disorders
62
|
Synofzik M...Zuchner S
|
25299038 |
2014 |
40 |
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
62
|
Kosho T...Coffin-Siris Syndrome International Collaborators
|
25168959 |
2014 |
41 |
Cornelia de-lange syndrome: a case report.
62
|
Mehta DN...Bhatia R
|
25206204 |
2013 |
42 |
Erlotinib induced trichomegaly of the eyelashes.
62
|
Jeon SH...Hong GJ
|
23390452 |
2013 |
43 |
Cetuximab-associated elongation of the eyelashes: case report and review of eyelash trichomegaly secondary to epidermal growth factor receptor inhibitors.
62
|
Cohen PR...Kurzrock R
|
20726623 |
2011 |
44 |
Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity.
62
|
Alkuraya FS
|
20684000 |
2010 |
45 |
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.
62
|
Kitsiou-Tzeli S...Kanavakis E
|
20575009 |
2010 |
46 |
Synophrys.
62
|
Mohrenschlager M...Steiner C
|
20152950 |
2010 |
47 |
Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.
62
|
Takatsuki S...Yamamoto T
|
20358620 |
2010 |
48 |
Bilateral milia en plaque of the eyelids: long eyelashes and unibrow--case report and review of literature.
62
|
Wollina U
|
20100256 |
2010 |
49 |
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
62
|
Xin B...Wang H
|
20018682 |
2010 |
50 |
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.
62
|
Reddy S...Velinov M
|
19772933 |
2009 |