Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship.

Joël Zlotogora, E Elian

Journal of Medical Genetics

49, XYYYY. A case report

Lea Sirota, Y. Zlotogora, Fiorella Shabtai, +2

Clinical Genetics

Intestinal Obstruction of the Newborn Infant

E Elian, H. Shwaghman, W. Hardy Hendren

New England Journal of Medicine

Intestinal ObstructionNeonatologyInfant NutritionAbdominal ImagingGastroenterology +9

The genetics of the aryl sulfatase A locus.

T. Schaap, Joël Zlotogora, E Elian, +2

PubMed

Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.

Joël Zlotogora, Gideon Bach, Yoram Barak, +1

PubMed

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

Moshe Frydman, F Shabtal, I. Halbrecht, +1

Journal of Medical Genetics

Brain DevelopmentCytogeneticsGeneticsMotor DevelopmentEpigenetics +17

Sodium, Potassium, Calcium, and Magnesium in Hair from Neonates with Cystic Fibrosis and in Amniotic Fluid from Mothers of Such Children

Louis Kopito, E Elian, Harry Shwachman, +1

PEDIATRICS

Such ChildrenScalp HairElectrolyte DisorderAmniotic FluidPhysiology +5

Incontinentia pigmenti

T. C. Iancu, L. Komlos, F. Shabtay, +3

Clinical Genetics

Chromosome StudiesUrologyCytogeneticsUrogynecologyDermatology +3

Pure trisomy 17p in 60% of cells

Fiorella Shabtai, A Shalev, Juan Chemke, +2

Human Genetics

ChromatinCytogeneticsPathologyChromosome BiologyChromosomal Rearrangement +2

Unilateral radial aplasia and trisomy 22 mosaicism.

F. Dulitzky, F Shabtal, Joël Zlotogora, +2

Journal of Medical Genetics

CytogeneticsGeneticsGynecologySurgical PathologyHematology +16