Ph. Moerman

Chromosome Abnormalities and Genetic Counseling

Uterine Factors

Nucleotide- and nucleoside-converting ectoenzymes: Important modulators of purinergic signalling cascade

Mammalian phosphoinositide kinases and phosphatases

Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Piezos thrive under pressure: mechanically activated ion channels in health and disease

Hematopoietic Reconstitution in a Patient with Fanconi's Anemia by Means of Umbilical-Cord Blood from an HLA-Identical Sibling

Health Supervision for Children With Down Syndrome

Piezo2 senses airway stretch and mediates lung inflation-induced apnoea

22q11.2 deletion syndrome

Global, regional, and national causes of child mortality in 2000–13, with projections to inform post-2015 priorities: an updated systematic analysis

ESHRE guideline: recurrent pregnancy loss

A Novel 22q11.2 Microdeletion in DiGeorge Syndrome

Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization

Lethal congenital contracture syndrome: further delineation and genetic aspects.

International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion

Acceptance, reliability and confidence of diagnosis of fetal and neonatal virtuopsy compared with conventional autopsy: a prospective study

Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement

Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene

Severe limb malformations in 4p deletion

Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy

Four cytogenetic subgroups can be identified in endometrial polyps