C. Kozma

发表

The Interface Between Genomics and Nutrition

C. Kozma, 2003 .

Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.

C. Kozma, 2001, American journal of medical genetics.

Genetic Disorders in Ancient Egypt

C. Kozma, 2010 .

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

L. Shaffer, J. Lupski, P. Gunaratne, 1996, Human Genetics.

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

C. Tifft, Peter A. Smith, D. Eyre, 2007, Nature Genetics.

On cognitive variability in velocardiofacial syndrome: profound mental retardation and autism.

C. Kozma, 1998, American journal of medical genetics.

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities

L. Shaffer, P. O’Brien, E. Schröck, 1997, Human Genetics.

Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.

B. Haddad, C. Kozma, J. Meck, 2000, American journal of medical genetics.

The ancient Egyptian dwarfs of the pyramids: The high official and the female worker

R. Lachman, C. Kozma, Azza Mohamed Sarry El Din, 2011, American journal of medical genetics. Part A.

Skeletal dysplasia in ancient Egypt

C. Kozma, 2008, American journal of medical genetics. Part A.

The ancient Egyptian dwarfs of the Walters Art Museum

C. Kozma, 2010, American journal of medical genetics. Part A.

Dwarfs in ancient Egypt

C. Kozma, 2006, American journal of medical genetics. Part A.

Historical Review Dwarfs in Ancient Egypt

C. Kozma, 2006 .

Autosomal dominant inheritance of Brachmann-de Lange syndrome.

C. Kozma, 1996, American journal of medical genetics.

Gustatory Flushing Syndrome

C. Kozma, S. Gabriel, Chahira Kozma, 1993, Clinical pediatrics.

Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants

A. Slavotinek, C. Kozma, J. Meck, 2004, American journal of medical genetics. Part A.

Down Syndrome and Dementia

C. Kozma, 2008 .

Survey of Nursing and Medical Profile Prior to Deinstitutionalization of a Population with Profound Mental Retardation

C. Kozma, S. Mason, 2003, Clinical nursing research.

De novo duplication of 17p [dup(17)(p12----p11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects.

C. Kozma, K. J. Loomis, J. Meck, 1991, American journal of medical genetics.

Genetic Discrimination: Perspectives of Consumers

C. Kozma, J. Weiss, E V Lapham, 1996, Science.

Familial 10p trisomy resulting from a maternal pericentric inversion.

C. Kozma, J. Meck, 1994, American journal of medical genetics.

Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

L. Shaffer, J. Lupski, P. Gunaratne, 2005, Human Genetics.

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA.

C. Kozma, J. Meck, J. Blancato, 1998, American journal of medical genetics.

Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.

S. Chong, C. Kozma, J. Meck, 1999, American journal of medical genetics.

Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye.

E. Traboulsi, C. Kozma, J. Meck, 1990, Ophthalmic paediatrics and genetics.

The gap between practice and genetics education of health professionals: HuGEM survey results

J. Benkendorf, C. Kozma, J. Weiss, 2000, Genetics in Medicine.

The microcephaly‐lymphoedema syndrome: report of an additional family

C. Kozma, E. Gersh, N. Scribanu, 1996, Clinical dysmorphology.

Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history.

C. Kozma, C. Leftridge, V. G. Prabhu, 1998, American journal of medical genetics.

Neonatal toxicity and transient neurodevelopmental deficits following prenatal exposure to lithium: Another clinical report and a review of the literature

C. Kozma, 2005, American journal of medical genetics. Part A.

Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow‐up

J. King, C. Kozma, J. Meck, 1994, Prenatal diagnosis.

Methotrexate and misoprostol teratogenicity: Further expansion of the clinical manifestations

C. Kozma, J. Ramasethu, 2011, American journal of medical genetics. Part A.

PRENATAL DETECTION OF DE NOVO INVERSION OF CHROMOSOME (2) (p13q11.2) AND POSTNATAL FOLLOW‐UP

C. Kozma, J. Meck, CHAHIRA KOZMA, 1996, Prenatal diagnosis.

"Incorporation of Genetics into Clinical Practice": Genetic Education for Health Professionals

C. Kozma, J. Weiss, N. Scribanu, 1995 .

Corrigendum: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

C. Tifft, Peter A. Smith, D. Eyre, 2008, Nature Genetics.