K. Aleck

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Suppressibility of glucagon juvenile diabetes secretion by glucose in

M. Sperling, K. Aleck, S. Voina, 1977 .

Suppressibility of glucagon secretion by glucose in juvenile diabetes.

M. Sperling, K. Aleck, S. Voina, 1977, The Journal of pediatrics.

Genetic-metabolic considerations in the sick neonate.

K. Aleck, L. Shapiro, Larry J. Shapiro, 1978, Pediatric clinics of North America.

Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

P. Kishnani, N. Mendelsohn, A. Proia, 2014, Journal of pediatric ophthalmology and strabismus.

Orally administered liposome-entrapped insulin in diabetic animals. A critical assessment.

M. Sinha, M. Sperling, C. Brownscheidle, 1982, Hormone research.

Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient.

D. Bartley, Douglas L. Bartley, K. Aleck, 1997, American journal of medical genetics.

Familial porencephaly.

A. Kaplan, R. Berg, K. Aleck, 1983, Archives of neurology.

METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY

R. Desnick, A. Fluharty, H. Itabashi, 1979, Pediatric Research.

Eccrine Squamous Metaplasia and Periadnexal Granulomas: New Cutaneous Histopathologic Findings in Cardiofaciocutaneous Syndrome

M. Jeffries, R. Hansen, K. Aleck, 2009, Pediatric dermatology.

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity.

D. Rimoin, P. Kaplan, C. Clericuzio, 1987, American journal of medical genetics.

True hermaphroditism with partial duplication of chromosome 22 and without SRY.

R. Erickson, J. Hackel, J. Stone, 1999, American journal of medical genetics.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Thomas Meitinger, Guy Lenaers, Patrizia Amati-Bonneau, 2016, American journal of human genetics.

Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature

T. Miloh, D. Demello, D. Carpentieri, 2015, Molecular genetics and metabolism reports.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

A. Serretti, A. Fatemi, K. Gripp, 2018, Clinical genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

L. Biesecker, J. Johnston, L. Bird, 2003, American journal of medical genetics. Part A.

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

W. Cavenee, Kenneth, P. Grundy, 1989, American journal of human genetics.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

J. Lupski, S. Cheung, N. Katsanis, 2014, American journal of human genetics.

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

R. Weksberg, J. Opitz, J. Allanson, 1995, Nature Genetics.

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

E. Jabs, B. Korf, J. Mulliken, 1998, American journal of human genetics.

Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.

R. Bhardwaj, Al-Wala Awad, K. Aleck, 2014, World journal of clinical cases.

In utero central nervous system damage in pyruvate dehydrogenase deficiency.

B. Robinson, A. Kaplan, K. Aleck, 1988, Archives of neurology.

Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).

M. Hodes, A. Aydanian, S. Naidu, 1999, American journal of medical genetics.