| 1 |
Biochemical screening for chromosomal disorders and neural tube defects (NTD): is adjustment of maternal alpha-fetoprotein (AFP) still appropriate in insulin-dependent diabetes mellitus (IDDM)?
53
62
|
Sancken U...Bartels I
|
11360279 |
2001 |
| 2 |
Maternal serum screening for Down syndrome in a teaching hospital in Hong Kong.
53
62
|
Law L...Hjelm M
|
11601289 |
1999 |
| 3 |
Alpha-fetoprotein in fetal serum, amniotic fluid, and maternal serum.
53
62
|
Van Lith JM...Breed AS
|
1722580 |
1991 |
| 4 |
Cannabis- and Substance-Related Epidemiological Patterns of Chromosomal Congenital Anomalies in Europe: Geospatiotemporal and Causal Inferential Study.
62
|
Reece AS...Hulse GK
|
36141481 |
2022 |
| 5 |
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.
62
|
Serra G...Piro E
|
36076277 |
2022 |
| 6 |
Women's responses to prenatal genetic diagnosis and attitudes to termination of pregnancy after non-invasive prenatal testing: An online survey of Western Australian women.
62
|
Long S...Dickinson JE
|
36068728 |
2022 |
| 7 |
Risk factors for severe PCR-positive SARS-CoV-2 infection in hospitalised children.
62
|
Schober T...Papenburg J
|
36053578 |
2022 |
| 8 |
Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review.
62
|
Varshney K...Stephens MM
|
35686676 |
2022 |
| 9 |
Prevalence and trends of congenital heart defects among live births from 2005 to 2014 in Northern Ireland.
62
|
Saad H...Loane M
|
35968936 |
2022 |
| 10 |
Association of Prenatal Exposure to Antiseizure Medication With Risk of Autism and Intellectual Disability.
62
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Bjork MH...Christensen J
|
35639399 |
2022 |
| 11 |
MicroRNA-126-3p/5p and Aortic Stiffness in Patients with Turner Syndrome.
62
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Abu-Halima M...Abdul-Khaliq H
|
35892612 |
2022 |
| 12 |
The effect of hemolysis on quality control metrics for noninvasive prenatal testing.
62
|
Guo Y...Xiang J
|
35659298 |
2022 |
| 13 |
Complex study of Cancer Morbidity and Inflammatory Markers, Presented in the Blood Serum of the Rural Population of Sachkhere District of Georgia.
62
|
Tikaradze E...Sanikidze T
|
35763657 |
2022 |
| 14 |
Prenatal serum screening - a summary of our experience with high risk reporting.
62
|
Sinkar P...Kallathiyan K
|
32510260 |
2022 |
| 15 |
Antenatal screening for chromosomal abnormalities.
62
|
Kagan KO...Kozlowski P
|
35279726 |
2022 |
| 16 |
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.
62
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Hu X...Smolarek TA
|
35248119 |
2022 |
| 17 |
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome.
62
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Luo H...Yang C
|
35361246 |
2022 |
| 18 |
Altered gut microbiota correlates with cognitive impairment in Chinese children with Down's syndrome.
62
|
Ren S...Guo J
|
33999314 |
2022 |
| 19 |
Classification of analyzable metaphase images using transfer learning and fine tuning.
62
|
Albayrak A
|
34822119 |
2022 |
| 20 |
Psychosocial Functioning in Siblings of Children With Rare Disorders Compared to Controls.
62
|
Haukeland YB...Fjermestad KW
|
34970091 |
2021 |
| 21 |
Physical Activity and Diet Quality: Effects on Cardiovascular Morbidity in Women with Turner Syndrome-Results from an Online Patient Survey.
62
|
Arnold L...Oberhoffer FS
|
35011908 |
2021 |
| 22 |
A Comparison of Sexual Function in Male Patients with Anorectal Malformations Between the Conventional and Laparoscopic Approaches.
62
|
Ishimaru T...Inoue M
|
34669516 |
2021 |
| 23 |
Preimplantation Genetic Testing: A Perceptual Study From the Eastern Province, Saudi Arabia.
62
|
Tehsin F...Buawadh HS
|
35047260 |
2021 |
| 24 |
Non-Invasive Prenatal Genetic Testing (NIPT) Leading to Prenatal Diagnosis of Trisomy 21 Mosaicism and 18q Deletion Syndrome: Two Cases.
62
|
Hayata K...Masuyama H
|
34955544 |
2021 |
| 25 |
Y Chromosome Material in Turner Syndrome.
62
|
Akcan AB...Boduroglu OK
|
34868795 |
2021 |
| 26 |
Association of maternal body mass index with intellectual disability risk.
62
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Lee PMY...Li J
|
33849956 |
2021 |
| 27 |
Effect of short-term psychological intervention on anxiety of pregnant women with positive screening results for chromosomal disorders: a randomized controlled trial.
62
|
Bayat A...Haghani S
|
34753431 |
2021 |
| 28 |
The impact of asymmetry on the radiographical outcomes following hip reconstruction in patients with cerebral palsy.
62
|
Pargas C...Shrader MW
|
34858539 |
2021 |
| 29 |
Reticulocyte hemoglobin content as a function of iron stores at 35-36 weeks post menstrual age in very premature infants.
62
|
Amin K...Amin S
|
31662016 |
2021 |
| 30 |
Effect of Vasopressin on Systemic and Pulmonary Hemodynamics in Neonates.
62
|
Budniok T...Louis D
|
32485754 |
2021 |
| 31 |
Relation Between Increased Fetal Nuchal Translucency Thickness and Chromosomal Defects in Northern Vietnam.
62
|
Hai Long N...Toan Anh N
|
34745772 |
2021 |
| 32 |
Time interval from late preterm antenatal corticosteroid administration to delivery and the impact on neonatal outcomes.
62
|
Gulersen M...Bornstein E
|
34153514 |
2021 |
| 33 |
Platelets and Immature Neutrophils in Preterm Infants with Feeding Intolerance.
62
|
Alhamad MMA...Ho TTB
|
32446253 |
2021 |
| 34 |
Prenatal exposure to maternal β-thalassemia minor and the risk for long-term hematologic morbidity in the offspring: A population-based cohort study.
62
|
Adler A...Sheiner E
|
34102479 |
2021 |
| 35 |
Genetic testing in patients with possible foetal alcohol spectrum disorder.
62
|
Lam Z...Jewell R
|
33229415 |
2021 |
| 36 |
Cis-acting: A pattern of lncRNAs for gene regulation in induced pluripotent stem cells from patients with Down syndrome determined by integrative analysis of lncRNA and mRNA profiling data.
62
|
Ma W...Yan J
|
34007310 |
2021 |
| 37 |
The Unrecognized Mortality Burden of Genetic Disorders in Infancy.
62
|
Wojcik MH...Agrawal PB
|
34314210 |
2021 |
| 38 |
Genetic findings in miscarriages and their relation to the number of previous miscarriages.
62
|
Gomez R...Skala C
|
33211176 |
2021 |
| 39 |
Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period.
62
|
Tidrenczel Z...Beke A
|
33683014 |
2021 |
| 40 |
Clinical and genetic findings in patients with congenital cataract and heart diseases.
62
|
Li X...Xiao W
|
34059112 |
2021 |
| 41 |
"Difficult to Sedate": Successful Implementation of a Benzodiazepine-Sparing Analgosedation-Protocol in Mechanically Ventilated Children.
62
|
Shildt N...Kamat PP
|
33924822 |
2021 |
| 42 |
Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings.
62
|
Bugno-Poniewierska M...Raudsepp T
|
33809432 |
2021 |
| 43 |
Land use as an effective factor on the occurrence of chromosomal diseases in Brazil.
62
|
Cochak MR...Ribeiro LFC
|
34853634 |
2021 |
| 44 |
Effectiveness of the Preventive Intervention of Chromosomal Disorders of Iran's Community Genetics Program: Application of Bayesian Network.
62
|
Azimi SS...Soori H
|
35321377 |
2021 |
| 45 |
Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders.
62
|
Qi QG...Wu AN
|
34025125 |
2021 |
| 46 |
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
62
|
Liu S...Pan H
|
34956087 |
2021 |
| 47 |
An unknown chromosomal aberration in a patient with chronic lymphocytic leukemia: Extra isochromosome 4q.
62
|
Atli EI...Demir AM
|
33723172 |
2021 |
| 48 |
High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.
62
|
So J...Gofine T
|
32495635 |
2020 |
| 49 |
Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18.
62
|
Khabarova AA...Serov OL
|
33212351 |
2020 |
| 50 |
[Neurological changes and outcomes of paediatric surgery of the aortic arch using selective cerebral perfusion].
62
|
Sanchez Perez R...Aroca Peinado A
|
32513600 |
2020 |
