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FOWZAN ALKURAYA, MD

MD

Pediatrics Physician

NPI: 1518946607Individual

Specialties, Licenses & Credentials

Clinical Genetics (M.D.) Physician

Medical Genetics — Clinical Genetics (M.D.)

Code: 207SG0201X

220648(MA)
Pediatrics PhysicianPrimary

Pediatrics

Code: 208000000X

220648(MA)

Research & Publications (20)

SUMO1 haploinsufficiency leads to cleft lip and palate.
PMID 16990542·Science·2006
7-preclinical
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
PMID 15580636·Am J Med Genet A·2005
5-case
Trisomy 8 mosaicism in a patient with heterotaxia.
PMID 15578648·Birth Defects Res A Clin Mol Teratol·2005
8-other
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
PMID 15965973·Birth Defects Res A Clin Mol Teratol·2005
5-case
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
PMID 19449432·Am J Med Genet A·2009
8-other
Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
PMID 19369245·Invest Ophthalmol Vis Sci·2009
8-other
NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
PMID 19353646·Am J Med Genet A·2009
5-case
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.
PMID 19283855·Am J Med Genet A·2009
5-case
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
PMID 19277732·Neurogenetics·2009
7-preclinical
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.
PMID 19681135·Am J Med Genet A·2009
5-case
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
PMID 19633732·Mol Vis·2009
5-case
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
PMID 19461931·Mol Vis·2009
8-other
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
PMID 18701883·Eur J Hum Genet·2009
8-other
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
PMID 19026396·Am J Hum Genet·2008
8-other
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.
PMID 18553553·Am J Med Genet A·2008
5-case
Expanding the "E" in CHARGE.
PMID 18553515·Am J Med Genet A·2008
5-case
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
PMID 18319076·Am J Hum Genet·2008
8-other
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PMID 17530927·PLoS Genet·2007
7-preclinical
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.
PMID 16601897·J Inherit Metab Dis·2006
5-case
Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?
PMID 16506278·Prenat Diagn·2006
5-case

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

Contact & Hours

Address
300 LONGWOOD AVE
BOSTON, MA 02115

Location

Practice Location

300 LONGWOOD AVE, BOSTON, MA
(617) 355-6000

Quick Facts

NPI
1518946607
Entity Type
Individual
Gender
Male
Medicare
Not confirmed
Specialties
2
Locations
1
Publications
20

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