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The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single‐institution case series

Pediatric blood & cancer, 2023-07, Vol.70 (7), p.e30400-n/a

2023

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The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community

Haemophilia : the official journal of the World Federation of Hemophilia, 2023-03, Vol.29 (2), p.513-520

2023

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Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

Human mutation, 2015-08, Vol.36 (8), p.797-807

2015

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Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.750-753

2016

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Do Neonates with Genetic Abnormalities Have an Increased Morbidity and Mortality following Cardiac Surgery?

Congenital heart disease, 2009-05, Vol.4 (3), p.160-165

2009

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Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge

American journal of medical genetics. Part A, 2011-09, Vol.155A (9), p.2186-2195

2011

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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2781-2787

2012

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Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2008-04, Vol.146A (7), p.904-909

2008

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Preaxial hallucal polydactyly as a marker for diabetic embryopathy

Birth defects research. A Clinical and molecular teratology, 2009-01, Vol.85 (1), p.13-19

2009

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Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Birth defects research. A Clinical and molecular teratology, 2007-03, Vol.79 (3), p.242-248

2007

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Unique mosaicism of tetraploidy and trisomy 8: Clinical, cytogenetic, and molecular findings in a live-born infant

American journal of medical genetics, 1996-03, Vol.62 (3), p.243-246

1996

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Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Birth Defects Research Part A: Clinical and Molecular Teratology, 2007, Vol.79 (3), p.242-248

2007

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Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

American Journal of Medical Genetics Part A, 2008, Vol.146A (7), p.904-909

2008

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The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single‐institution case series

The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community

Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Do Neonates with Genetic Abnormalities Have an Increased Morbidity and Mortality following Cardiac Surgery?

Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Unique mosaicism of tetraploidy and trisomy 8: Clinical, cytogenetic, and molecular findings in a live-born infant

Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

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